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"https://www.ncbi.nlm.nih.gov/protein/NP_001304847", "id": "NP_001304847" }, { "name": "skeletal muscle cells re-entry induced; protein FAM91A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304847", "id": "NP_001304847" } ], "function": [ { "annotation": "As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1.", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4#function" }, { "database": "PubMed", "id": "29426865", "url": "https://glygen.org/publication/PubMed/29426865" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q658Y4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q658Y4" } ], "glycoeffect": [], "start_pos": 379, "end_pos": 379, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "123787317", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A379", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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", 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}, { "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:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "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:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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: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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "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": "MIM:611868", "resource": "MIM", 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"BioXpress", "id": "Q658Y4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q658Y4" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "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", 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"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": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder 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"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 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"" }, { "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:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "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": 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q658Y4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q658Y4" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://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 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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": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q658Y4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q658Y4" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q658Y4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q658Y4" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q658Y4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q658Y4" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" } ], "common_name": "Human" } ], "gene": [ { "name": "FAM91A1", "url": "https://www.uniprot.org/uniprot/Q658Y4", "locus": { "chromosome": "8", "start_pos": 123815452, "end_pos": 123768439, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000176853", "url": "https://www.ensembl.org/id/ENSG00000176853" } ] } } ], "crossref": [ { "id": "ENSG00000176853", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176853", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q658Y4", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q658Y4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "FAM91A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM91A1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "157769", "url": "https://www.ncbi.nlm.nih.gov/gene/157769", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "26306", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26306", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q658Y4", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q658Y4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR028091", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028091", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039199", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039199", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:157769", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:157769", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_Q658Y4", "url": "https://www.nextprot.org/entry/NX_Q658Y4", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q658Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q658Y4", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KSPDENH", "url": "https://omabrowser.org/oma/group/KSPDENH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "160268at2759", "url": "http://www.orthodb.org/?query=160268at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR28441", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28441", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR28441:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28441:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR28441:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28441:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF14647", "url": "http://pfam.xfam.org/family/PF14647", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14648", "url": "http://pfam.xfam.org/family/PF14648", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q658Y4", "url": "https://pharos.nih.gov/targets/Q658Y4", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q658Y4", "url": "http://purl.obolibrary.org/obo/PR_Q658Y4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001304847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304847", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E7ER68", "url": "https://www.uniprot.org/uniprot/E7ER68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ER68-1", "url": "https://www.uniprot.org/uniprot/E7ER68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V120", "url": "https://www.uniprot.org/uniprot/G3V120", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V120-1", "url": "https://www.uniprot.org/uniprot/G3V120-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBR6", "url": "https://www.uniprot.org/uniprot/H0YBR6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBR6-1", "url": "https://www.uniprot.org/uniprot/H0YBR6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC80", "url": "https://www.uniprot.org/uniprot/H0YC80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC80-1", "url": "https://www.uniprot.org/uniprot/H0YC80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q658Y4-1", "url": "https://www.uniprot.org/uniprot/Q658Y4-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNIDVEFHIRHNYPWNKLPANVRQSLGNSQREYEKQVVLYSIRNQLRYRNNLVKHVKKDERRYYEELLKYSRDHLMLYPYHLSDIMVKGLRITPFSYYTGIMEDIMNSEKSYDSLPNFTAADCLRLLGIGRNQYIDLMNQCRSSKKFFRRKTARDLLPIKPVEIAIEAWWVVQAGYITEDDIKICTLPEKCAVDKIIDSGPQLSGSLDYNVVHSLYNKGFIYLDVPISDDSCIAVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIYHVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEFTRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEADWVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQEGASILDIHTEPSFSSLLSQSSCADMGVPLPAKNLIFKDGVLSEWSGRSPSSLLIANLHLQ", "length": 838, "header": "sp|Q658Y4-1|F91A1_HUMAN Isoform 1 of Protein FAM91A1 OS=Homo sapiens OX=9606 GN=FAM91A1 PE=1 SV=3 CANONICAL=Q658Y4-1" }, "isoforms": [ { "isoform_ac": "E7ER68-1", "url": "", "sequence": { "sequence": "MNIDVEFHIRHNYPWNKLPANVRQSLGNSQREYEKQVVLYSIRNQLRYRNNLVKHVKKDERRYYEELLKYSRDHLMLYPYHLSDIMVKGLRITPFSYYTGIMEDIMNSEKSYDSLPNFTAADCLRLLGIGRNQYIDLMNQCRSSKKFFRRKTARDLLPIKPVEIAIEAWWVVQAGYITEDDIKICTLPEKCAVDKIIDSGPQLSGSLDYNVVHSLYNKGFIYLDVPISDDSCIAVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIYHVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEFTRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEADWVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQVTKTKKSKWYLY", "length": 789, "header": "tr|E7ER68-1|F91A1_HUMAN Computationally mapped isoform of Protein FAM91A1 OS=Homo sapiens OX=9606 GN=FAM91A1 PE=1 SV=1 CANONICAL=Q658Y4-1" }, "locus": { "chromosome": "8", "start_pos": 123810387, "end_pos": 123768703, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521166.5", "url": "https://www.ensembl.org/id/ENST00000521166.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429491.1", "url": "https://www.ensembl.org/id/ENSP00000429491.1" } ] } }, { "isoform_ac": "G3V120-1", "url": "", "sequence": { "sequence": "MNIDVEFHIRHNYPWNKLPANVRQSLGNSQREYEKQVVLYSIRNQLRYRNNLVKHVKKDERRYYEELLKYSRDHLMLYPYHLSDIMVKGLRITPFSYYTGIMEDIMNSEKSYDSLPNFTAADCLRLLGIGRNQYIDLMNQCRSSKKFFRRKTARDLLPIKPVEIAIEAWWVVQAGYITEDDIKICTLPEKCAVDKIIDSGPQLSGSLDYNVVHSKWFV", "length": 218, "header": "tr|G3V120-1|F91A1_HUMAN Computationally mapped isoform of Protein FAM91A1 OS=Homo sapiens OX=9606 GN=FAM91A1 PE=1 SV=1 CANONICAL=Q658Y4-1" }, "locus": { "chromosome": "8", "start_pos": 123780486, "end_pos": 123768703, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519721.5", "url": "https://www.ensembl.org/id/ENST00000519721.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429784.1", "url": "https://www.ensembl.org/id/ENSP00000429784.1" } ] } }, { "isoform_ac": "H0YBR6-1", "url": "", "sequence": { "sequence": "XLYNKGFIYLDVPISDDSCIAVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKGGVSPC", "length": 114, "header": "tr|H0YBR6-1|F91A1_HUMAN Computationally mapped isoform of Protein FAM91A1 OS=Homo sapiens OX=9606 GN=FAM91A1 PE=1 SV=1 CANONICAL=Q658Y4-1" }, "locus": { "chromosome": "8", "start_pos": 123786023, "end_pos": 123780480, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517912.1", "url": "https://www.ensembl.org/id/ENST00000517912.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430158.1", "url": "https://www.ensembl.org/id/ENSP00000430158.1" } ] } }, { "isoform_ac": "H0YC80-1", "url": "", "sequence": { "sequence": "ADWVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQ", "length": 60, "header": "tr|H0YC80-1|F91A1_HUMAN Computationally mapped isoform of Protein FAM91A1 OS=Homo sapiens OX=9606 GN=FAM91A1 PE=1 SV=1 CANONICAL=Q658Y4-1" }, "locus": { "chromosome": "8", "start_pos": 123810351, "end_pos": 123808907, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518976.1", "url": "https://www.ensembl.org/id/ENST00000518976.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431097.1", "url": "https://www.ensembl.org/id/ENSP00000431097.1" } ] } }, { "isoform_ac": "Q658Y4-1", "url": "", "sequence": { "sequence": "MNIDVEFHIRHNYPWNKLPANVRQSLGNSQREYEKQVVLYSIRNQLRYRNNLVKHVKKDERRYYEELLKYSRDHLMLYPYHLSDIMVKGLRITPFSYYTGIMEDIMNSEKSYDSLPNFTAADCLRLLGIGRNQYIDLMNQCRSSKKFFRRKTARDLLPIKPVEIAIEAWWVVQAGYITEDDIKICTLPEKCAVDKIIDSGPQLSGSLDYNVVHSLYNKGFIYLDVPISDDSCIAVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIYHVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEFTRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEADWVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQEGASILDIHTEPSFSSLLSQSSCADMGVPLPAKNLIFKDGVLSEWSGRSPSSLLIANLHLQ", "length": 838, "header": "sp|Q658Y4-1|F91A1_HUMAN Isoform 1 of Protein FAM91A1 OS=Homo sapiens OX=9606 GN=FAM91A1 PE=1 SV=3 CANONICAL=Q658Y4-1" }, "locus": { "chromosome": "8", "start_pos": 123812701, "end_pos": 123768703, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000334705.12", "url": "https://www.ensembl.org/id/ENST00000334705.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000335082.7", "url": "https://www.ensembl.org/id/ENSP00000335082.7" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q658Y4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q658Y4" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 332, "end_pos": 332, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "site_lbl": "Ser332" }, { "start_pos": 340, "end_pos": 340, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser340" }, { "start_pos": 355, "end_pos": 355, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser355" }, { "start_pos": 364, "end_pos": 364, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser364" }, { "start_pos": 366, "end_pos": 366, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser366" }, { "start_pos": 367, "end_pos": 367, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser367" }, { "start_pos": 371, "end_pos": 371, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser371" }, { "start_pos": 671, "end_pos": 671, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "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": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser671" }, { "start_pos": 674, "end_pos": 674, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser674" }, { "start_pos": 684, "end_pos": 684, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" } ], "site_lbl": "Ser684" }, { "start_pos": 691, "end_pos": 691, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser691" }, { "start_pos": 692, "end_pos": 692, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr692" }, { "start_pos": 826, "end_pos": 826, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q658Y4", "url": "http://phospho.elm.eu.org/byAccession/Q658Y4.html" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser826" }, { "start_pos": 828, "end_pos": 828, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ 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function.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Li X, Bu X, Lu B, Avraham H, Flavell RA, Lim B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "11809807", "url": "https://glygen.org/publication/PubMed/11809807" } ] }, { "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": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "RhoH GTPase recruits and activates Zap70 required for T cell receptor signaling and thymocyte development.", "journal": "Nature immunology", "date": "2006", "authors": "Gu Y, Chae HD, Siefring JE, Jasti AC, Hildeman DA, Williams DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "17028588", "url": "https://glygen.org/publication/PubMed/17028588" } ] }, { "title": "Multiple Rho proteins regulate the subcellular targeting of PAK5.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Wu X, Frost JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "17064668", "url": "https://glygen.org/publication/PubMed/17064668" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "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": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "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": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "UniProtKB", "id": "E7ER68", "url": "https://www.uniprot.org/uniprot/E7ER68" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "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", 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"Cellular signalling", "date": "2010", "authors": "Wang H, Zeng X, Fan Z, Lim B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "20184954", "url": "https://glygen.org/publication/PubMed/20184954" } ] }, { "title": "RhoH modulates pre-TCR and TCR signalling by regulating LCK.", "journal": "Cellular signalling", "date": "2011", "authors": "Wang H, Zeng X, Fan Z, Lim B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "20851766", "url": "https://glygen.org/publication/PubMed/20851766" } ] }, { "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": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" }, { "database": "iPTMnet", "id": "Q658Y4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the 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Cell Biol.", "date": "2017", "authors": "Shin JJH, Gillingham AK, Begum F, Chadwick J, Munro S", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "29084197", "url": "https://glygen.org/publication/PubMed/29084197" } ] }, { "title": "The WDR11 complex facilitates the tethering of AP-1-derived vesicles.", "journal": "Nat. Commun.", "date": "2018", "authors": "Navarro Negredo P, Edgar JR, Manna PT, Antrobus R, Robinson MS", "evidence": [ { "database": "UniProtKB", "id": "Q658Y4", "url": "https://www.uniprot.org/uniprot/Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "29426865", "url": "https://glygen.org/publication/PubMed/29426865" } ] }, { "title": "An RNAi screen of Rho signalling networks identifies RhoH as a regulator of Rac1 in prostate cancer cell migration.", "journal": "BMC biology", "date": "2018", "authors": "Tajadura-Ortega V, Garg R, Allen R, Owczarek C, Bright MD, Kean S, Mohd-Noor A, Grigoriadis A, Elston TC, Hahn KM, Ridley AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "29510700", "url": "https://glygen.org/publication/PubMed/29510700" } ] }, { "title": "Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.", "journal": "Nature cell biology", "date": "2020", "authors": "Bagci H, Sriskandarajah N, Robert A, Boulais J, Elkholi IE, Tran V, Lin ZY, Thibault MP, Dube N, Faubert D, Hipfner DR, Gingras AC, Cote JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "31871319", "url": "https://glygen.org/publication/PubMed/31871319" } ] }, { "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": "Q658Y4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q658Y4" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": 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