{ "uniprot_canonical_ac": "P08861-1", "uniprot_ac": "P08861", "uniprot_id": "CEL3B_HUMAN", "mass": { "chemical_mass": 29263.0, "monoisotopic_mass": 29263.0 }, "refseq": { "ac": "NP_031378", "name": "chymotrypsin-like elastase family member 3B preproprotein", "summary": "Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" }, "gene_names": [ { "name": "CELA3B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08861", "id": "P08861" }, { "name": "CBPP; ELA3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378", "id": "NP_031378" }, { "name": "CELA3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378", "id": "NP_031378" }, { "name": "ELA3B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08861", "id": "P08861" } ], "protein_names": [ { "name": "Chymotrypsin-like elastase family member 3B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08861" }, { "name": "3.4.21.70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08861" }, { "name": "Elastase IIIB", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08861" }, { "name": "Elastase-3B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08861" }, { "name": "Protease E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08861" }, { "name": "chymotrypsin-like elastase family member 3B preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378", "id": "NP_031378" }, { "name": "proteinase E; pancreatic endopeptidase E; cholesterol-binding pancreatic protease; elastase 3B, pancreatic; protease E; pancreatic elastase 1; elastase-3B; elastase IIIB; fecal elastase 1; chymotrypsin like elastase family member 3B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378", "id": "NP_031378" } ], "function": [ { "annotation": "Does the Complex of CELA3B Variants With Other Pancreatitis-Related Genes Affect Developing Childhood Pancreatitis?", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" }, { "database": "PubMed", "id": "37307306", "url": "https://glygen.org/publication/PubMed/37307306" } ] }, { "annotation": "Efficient protease with alanine specificity but only little elastolytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861#function" } ] }, { "annotation": "Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" }, { "database": "PubMed", "id": "31369399", "url": "https://glygen.org/publication/PubMed/31369399" } ] }, { "annotation": "Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" } ] }, { "annotation": "The aim of this study was to examine the frequency of exocrine dysfunctions of the pancreas according to the level of fecal elastase-1 (FE-1) in patients with diabetes mellitus, type 1 and diabetes mellitus, type 2.", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" }, { "database": "PubMed", "id": "30106003", "url": "https://glygen.org/publication/PubMed/30106003" } ] }, { "annotation": "The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" }, { "database": "PubMed", "id": "33565216", "url": "https://glygen.org/publication/PubMed/33565216" } ] }, { "annotation": "Utility of Fecal Elastase-1 to diagnose severe exocrine insufficiency in chronic pancreatitis: Real world experience.", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" }, { "database": "PubMed", "id": "36610873", "url": "https://glygen.org/publication/PubMed/36610873" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs773645202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773645202" }, { "id": "rs773645202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773645202" }, { "id": "rs773645202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773645202#frequency_tab" }, { "id": "rs773645202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773645202" }, { "id": "22895193", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22895193" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 116, "end_pos": 116, "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRL).", "chr_id": "1", "chr_pos": "21981157", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S116", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs773645202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773645202" }, { "id": "rs773645202", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773645202" }, { "id": "rs773645202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773645202#frequency_tab" }, { "id": "rs773645202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773645202" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 116, "end_pos": 116, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRW).", "chr_id": "1", "chr_pos": "21981157", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08861", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08861" }, { "id": "rs1218462779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218462779" }, { "id": "rs1218462779", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218462779" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "1", "chr_pos": "21983715", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K128", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P08861", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08861" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 170, "end_pos": 170, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "1", "chr_pos": "21984197", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P170", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1357444199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357444199" }, { "id": "rs1357444199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1357444199" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 170, "end_pos": 170, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGP->NGT).", "chr_id": "1", "chr_pos": "21984197", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08861", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08861" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 224, "end_pos": 224, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "1", "chr_pos": "21986558", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P224", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "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": "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:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760680777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760680777" }, { "id": "rs760680777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760680777" }, { "id": "rs760680777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760680777#frequency_tab" }, { "id": "rs760680777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760680777" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 247, "end_pos": 247, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTR->NTS).", "chr_id": "1", "chr_pos": "21986627", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R247", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "43.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "50.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "62.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "32.83", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "69.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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: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: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:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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: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: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", "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "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", "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": "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "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", "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: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": "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": "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:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "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 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": "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": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "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": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://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": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08861" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "common_name": "Human" } ], "gene": [ { "name": "CELA3B", "url": "https://www.uniprot.org/uniprot/P08861", "locus": { "chromosome": "1", "start_pos": 21998642, "end_pos": 21977022, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000219073", "url": "https://www.ensembl.org/id/ENSG00000219073" } ] } } ], "crossref": [ { "id": "ENSG00000219073", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000219073", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P08861", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08861", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00190", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00190", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CELA3B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CELA3B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23436", "url": "https://www.ncbi.nlm.nih.gov/gene/23436", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "125", "url": "https://glyconnect.expasy.org/browser/proteins/125", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "15945", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15945", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001254", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001254", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001314", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001314", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009003", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009003", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018114", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018114", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043504", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043504", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23436", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23436", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "618694", "url": "http://www.omim.org/entry/618694", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08861", "url": "https://www.nextprot.org/entry/NX_P08861", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "KNGSFHH", "url": "https://omabrowser.org/oma/group/KNGSFHH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4629979at2759", "url": "http://www.orthodb.org/?query=4629979at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24257", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24257", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24257:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24257:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00089", "url": "http://pfam.xfam.org/family/PF00089", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08861", "url": "https://pharos.nih.gov/targets/P08861", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054578", "url": "https://proconsortium.org/app/entry/PR:000054578", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054579", "url": "https://proconsortium.org/app/entry/PR:000054579", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054580", "url": "https://proconsortium.org/app/entry/PR:000054580", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054581", "url": "https://proconsortium.org/app/entry/PR:000054581", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054582", "url": "https://proconsortium.org/app/entry/PR:000054582", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054583", "url": "https://proconsortium.org/app/entry/PR:000054583", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054584", "url": "https://proconsortium.org/app/entry/PR:000054584", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054585", "url": "https://proconsortium.org/app/entry/PR:000054585", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054586", "url": "https://proconsortium.org/app/entry/PR:000054586", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054587", "url": "https://proconsortium.org/app/entry/PR:000054587", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054588", "url": "https://proconsortium.org/app/entry/PR:000054588", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054589", "url": "https://proconsortium.org/app/entry/PR:000054589", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054590", "url": "https://proconsortium.org/app/entry/PR:000054590", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054591", "url": "https://proconsortium.org/app/entry/PR:000054591", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054592", "url": "https://proconsortium.org/app/entry/PR:000054592", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054593", "url": "https://proconsortium.org/app/entry/PR:000054593", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054594", "url": "https://proconsortium.org/app/entry/PR:000054594", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054595", "url": "https://proconsortium.org/app/entry/PR:000054595", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054596", "url": "https://proconsortium.org/app/entry/PR:000054596", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054597", "url": "https://proconsortium.org/app/entry/PR:000054597", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054598", "url": "https://proconsortium.org/app/entry/PR:000054598", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054599", "url": "https://proconsortium.org/app/entry/PR:000054599", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054600", "url": "https://proconsortium.org/app/entry/PR:000054600", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054601", "url": "https://proconsortium.org/app/entry/PR:000054601", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P08861", "url": "http://purl.obolibrary.org/obo/PR_P08861", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08861", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0A0MSA6", "url": "https://www.uniprot.org/uniprot/A0A0A0MSA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSA6-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08861-1", "url": "https://www.uniprot.org/uniprot/P08861-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMLRLLSSLLLVAVASGYGPPSSRPSSRVVNGEDAVPYSWPWQVSLQYEKSGSFYHTCGGSLIAPDWVVTAGHCISSSRTYQVVLGEYDRAVKEGPEQVIPINSGDLFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNETPCYITGWGRLYTNGPLPDKLQEALLPVVDYEHCSRWNWWGSSVKKTMVCAGGDIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNTRRKPTVFTRVSAFIDWIEETIASH", "length": 270, "header": "sp|P08861-1|CEL3B_HUMAN Isoform 1 of Chymotrypsin-like elastase family member 3B OS=Homo sapiens OX=9606 GN=CELA3B PE=1 SV=3 CANONICAL=P08861-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSA6-1", "url": "", "sequence": { "sequence": "QVIPINSGDLFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNETPCYITGWGRLYTNGPLPDKLQEALLPVVDYEHCSRWNWWGSSVKKTMVCAGGDIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNTRRKPTVFTRVSAFIDWIEEKLQGNKAPESRT", "length": 180, "header": "tr|A0A0A0MSA6-1|CEL3B_HUMAN Computationally mapped isoform of Chymotrypsin-like elastase family member 3B OS=Homo sapiens OX=9606 GN=CELA3B PE=1 SV=1 CANONICAL=P08861-1" }, "locus": { "chromosome": "1", "start_pos": 21998186, "end_pos": 21981102, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400277.2", "url": "https://www.ensembl.org/id/ENST00000400277.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000383135.2", "url": "https://www.ensembl.org/id/ENSP00000383135.2" } ] } }, { "isoform_ac": "P08861-1", "url": "", "sequence": { "sequence": "MMLRLLSSLLLVAVASGYGPPSSRPSSRVVNGEDAVPYSWPWQVSLQYEKSGSFYHTCGGSLIAPDWVVTAGHCISSSRTYQVVLGEYDRAVKEGPEQVIPINSGDLFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNETPCYITGWGRLYTNGPLPDKLQEALLPVVDYEHCSRWNWWGSSVKKTMVCAGGDIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNTRRKPTVFTRVSAFIDWIEETIASH", "length": 270, "header": "sp|P08861-1|CEL3B_HUMAN Isoform 1 of Chymotrypsin-like elastase family member 3B OS=Homo sapiens OX=9606 GN=CELA3B PE=1 SV=3 CANONICAL=P08861-1" }, "locus": { "chromosome": "1", "start_pos": 21989276, "end_pos": 21977040, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337107.11", "url": "https://www.ensembl.org/id/ENST00000337107.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000338369.6", "url": "https://www.ensembl.org/id/ENSP00000338369.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G04672QB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G07262RR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-114 ; ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G11911BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G16536EO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G16546ZZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G20767LB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-114 ; ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G22493AJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G22625SJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G25520XG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-114 ; ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G27919IH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G29880MM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G36581MF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-114 ; ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G41742IZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G44215PV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G45889JQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G46687AB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G47606XQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-114 ; ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G49874UX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G58667NI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G61334IA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G63640QH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G70418MS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G70822IO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G71367OV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G73408MO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G74430RZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G74724QE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G74838NI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G78059CC", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G80223IX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G80858MF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "ASN-114 ; ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G82348BZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: N-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G85709JZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G86555OF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G87535DG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-114", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "G91636VS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "glytoucan_ac": "G97765TT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "125", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "P08861", "database": "UniCarbKB", "url": "" }, { "id": "1898343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1898343" }, { "id": "P08861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08861#ptm_processing" }, { "id": "2737288", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2737288" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism.", "journal": "J. Invest. Dermatol.", "date": "2000", "authors": "Talas U, Dunlop J, Khalaf S, Leigh I M, Kelsell D P", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "10620133", "url": "https://glygen.org/publication/PubMed/10620133" } ] }, { "title": "Carbohydrate structure of human pancreatic elastase 1.", "journal": "The Biochemical journal", "date": "1991", "authors": "Wendorf P, Linder D, Sziegoleit A, Geyer R", "evidence": [ { "database": "UniCarbKB", "id": "P08861", "url": "" }, { "database": "GlyConnect", "id": "125", "url": "https://glyconnect.expasy.org/browser/proteins/125" } ], "reference": [ { "type": "PubMed", "id": "1898343", "url": "https://glygen.org/publication/PubMed/1898343" } ] }, { "title": "Recurrent R-spondin fusions in colon cancer.", "journal": "Nature", "date": "2012", "authors": "Seshagiri S, Stawiski EW, Durinck S, Modrusan Z, Storm EE, Conboy CB, Chaudhuri S, Guan Y, Janakiraman V, Jaiswal BS, Guillory J, Ha C, Dijkgraaf GJ, Stinson J, Gnad F, Huntley MA, Degenhardt JD, Haverty PM, Bourgon R, Wang W, Koeppen H, Gentleman R, Starr TK, Zhang Z, Largaespada DA, Wu TD, de Sauvage FJ", "evidence": [ { "database": "dbSNP", "id": "rs773645202", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773645202" } ], "reference": [ { "type": "PubMed", "id": "22895193", "url": "https://glygen.org/publication/PubMed/22895193" } ] }, { "title": "Generation of a subunit III-like protein by autolysis of human and porcine proproteinase E in a binary complex with procarboxypeptidase A.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1989", "authors": "Aviles FX, Pascual R, Salva M, Bonicel J, Puigserver A", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "2675835", "url": "https://glygen.org/publication/PubMed/2675835" } ] }, { "title": "Localization and characterization of the glycosylation site of human pancreatic elastase 1.", "journal": "FEBS letters", "date": "1989", "authors": "Wendorf P, Geyer R, Sziegoleit A, Linder D", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861#ptm_processing" }, { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "2737288", "url": "https://glygen.org/publication/PubMed/2737288" } ] }, { "title": "Identification of a procarboxypeptidase A-truncated protease E binary complex in human pancreatic juice.", "journal": "FEBS Lett.", "date": "1989", "authors": "Moulard M, Kerfelec B, Mallet B, Chapus C", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "2753124", "url": "https://glygen.org/publication/PubMed/2753124" } ] }, { "title": "Identification of a novel class of elastase isozyme, human pancreatic elastase III, by cDNA and genomic gene cloning.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Tani T, Ohsumi J, Mita K, Takiguchi Y", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "2826474", "url": "https://glygen.org/publication/PubMed/2826474" } ] }, { "title": "Fecal pancreatic elastase-1 and erythrocyte magnesium levels in diabetes type 1 and type 2.", "journal": "Magnesium research", "date": "2018", "authors": "Cabarkapa V, Djeric M, Mitrovic M, Kojic-Damjanov S, Isakov I, Vukovic B, Popovic D", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" } ], "reference": [ { "type": "PubMed", "id": "30106003", "url": "https://glygen.org/publication/PubMed/30106003" } ] }, { "title": "Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.", "journal": "The Journal of clinical investigation", "date": "2019", "authors": "Moore PC, Cortez JT, Chamberlain CE, Alba D, Berger AC, Quandt Z, Chan A, Cheng MH, Bautista JL, Peng J, German MS, Anderson MS, Oakes SA", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" } ], "reference": [ { "type": "PubMed", "id": "31369399", "url": "https://glygen.org/publication/PubMed/31369399" } ] }, { "title": "Characterization of two glycoproteins of human pancreatic juice: P35, a truncated protease E and P19, precursor of protein X.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1988", "authors": "Guy-Crotte O, Barthe C, Basso D, Fournet B, Figarella C", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "3178837", "url": "https://glygen.org/publication/PubMed/3178837" } ] }, { "title": "The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.", "journal": "Human mutation", "date": "2021", "authors": "Masson E, Rebours V, Buscail L, Frete F, Pagenault M, Lachaux A, Chevaux JB, Genin E, Cooper DN, Ferec C, Chen JM", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" } ], "reference": [ { "type": "PubMed", "id": "33565216", "url": "https://glygen.org/publication/PubMed/33565216" } ] }, { "title": "Primary structure of human pancreatic protease E determined by sequence analysis of the cloned mRNA.", "journal": "Biochemistry", "date": "1987", "authors": "Shen W F, Fletcher T S, Largman C", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "reference": [ { "type": "PubMed", "id": "3477287", "url": "https://glygen.org/publication/PubMed/3477287" } ] }, { "title": "Utility of Fecal Elastase-1 to diagnose severe exocrine insufficiency in chronic pancreatitis: Real world experience.", "journal": "Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]", "date": "2023-03", "authors": "Gopi Srikanth, Singh Namrata, Yegurla Jatin, Tabish Mohammad, Agarwal Samagra, Qamar Sumaira, Gunjan Deepak, Saraya Anoop", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" } ], "reference": [ { "type": "PubMed", "id": "36610873", "url": "https://glygen.org/publication/PubMed/36610873" } ] }, { "title": "Does the Complex of CELA3B Variants With Other Pancreatitis-Related Genes Affect Developing Childhood Pancreatitis?", "journal": "Journal of pediatric gastroenterology and nutrition", "date": "2023-09-01", "authors": "Suzuki Mitsuyoshi, Hirai Saeko, Sakurai Yumiko, Shimizu Toshiaki", "evidence": [ { "database": "RefSeq", "id": "NP_031378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031378" } ], "reference": [ { "type": "PubMed", "id": "37307306", "url": "https://glygen.org/publication/PubMed/37307306" } ] } ], "pathway": [ { "id": "hsa:23436", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23436", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A2A9U8-1", "protein_name": "Chymotrypsin-like elastase family, member 3A", "gene_name": "Cela3a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRLLSSLLLVALASGCGQPSHNPSSRVVNGEEAVPHSWPWQVSLQYEMGGSFHHTCGGSLITPDWVLTAGHCIMPYLNYRVVLGEHEHGVEEGSEQVIPINAGELFVHPKWNSECVNCGNNIALVKLSRSAQLGDAVQLACLPPAGEILPNGAPCYISGWGRLSTNGPLPTKLQQALLPVVDYEHCSRWDWWGHYVKRTMVCAGGYIQAHSLSSDTHQPRLLSPLQGDSGGPLNCPADNGTWQVHGIASFVSPSGCNTLKKPTMFTRVSAFIDWIEETIANN", "length": 283 }, "evidence": [ { "id": "45920811", "url": "http://www.informatics.jax.org/homology/45920811", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "D3ZFG3-1", "protein_name": "Chymotrypsin like elastase 3B", "gene_name": "Cela3b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRLLCSLLLVALASGCGQPSYNPSSRVVNGEDAVPYSWPWQVSLQYEKDGSFHHTCGGTLIAPDWVMTAGHCISTSRTYQVVLGEFERGVEEGPEQVIPVNAGDLFVHPKWNSNCVSCGNDIALVKLSRSAQLGDTVQLACLPPAGEILPNGAPCYISGWGRLSTNGPLPDKLQQALLPVVDYAHCSKWDWWGFSVKKTMVCAGGDIQARSLSSDTPYPLLFSSLQGDSGGPLNCPAENGTWQVHGVTSFVSSLGCNTLKKPTVFTRVSAFNEWIEETIANN", "length": 283 }, "evidence": [ { "id": "P08861", "url": "https://omabrowser.org/oma/group/P08861/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P09093-1", "protein_name": "Chymotrypsin-like elastase family member 3A", "gene_name": "CELA3A", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MMLRLLSSLLLVAVASGYGPPSSHSSSRVVHGEDAVPYSWPWQVSLQYEKSGSFYHTCGGSLIAPDWVVTAGHCISRDLTYQVVLGEYNLAVKEGPEQVIPINSEELFVHPLWNRSCVACGNDIALIKLSRSAQLGDAVQLASLPPAGDILPNKTPCYITGWGRLYTNGPLPDKLQQARLPVVDYKHCSRWNWWGSTVKKTMVCAGGYIRSGCNGDSGGPLNCPTEDGGWQVHGVTSFVSAFGCNFIWKPTVFTRVSAFIDWIEETIASH", "length": 270 }, "evidence": [ { "id": "45920811", "url": "http://www.informatics.jax.org/homology/45920811", "database": "MGI" }, { "id": "45920810", "url": "http://www.informatics.jax.org/homology/45920810", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9CQ52-1", "protein_name": "Chymotrypsin-like elastase family member 3B", "gene_name": "Cela3b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRLLSSLLLVALASGCGQPSHNPSSRVVNGEEAVPHSWPWQVSLQYEKDGSFHHTCGGSLITPDWVLTAGHCISTSRTYQVVLGEHERGVEEGQEQVIPINAGDLFVHPKWNSMCVSCGNDIALVKLSRSAQLGDAVQLACLPPAGEILPNGAPCYISGWGRLSTNGPLPDKLQQALLPVVDYEHCSRWNWWGLSVKTTMVCAGGDIQSGCNGDSGGPLNCPADNGTWQVHGVTSFVSSLGCNTLRKPTVFTRVSAFIDWIEETIANN", "length": 269 }, "evidence": [ { "id": "45920810", "url": "http://www.informatics.jax.org/homology/45920810", "database": "MGI" }, { "id": "P08861", "url": "https://omabrowser.org/oma/group/P08861/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08861", "url": "https://www.uniprot.org/uniprot/P08861" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 1 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G07262RR. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G07262RR. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054578", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054578" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 2 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G16536EO. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G16536EO. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054579", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054579" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 3 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G16546ZZ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G16546ZZ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054580", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054580" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 4 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G20767LB. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G20767LB. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054581", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054581" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 5 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G22493AJ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G22493AJ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054582", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054582" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 6 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G25520XG. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G25520XG. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054583", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054583" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 7 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G27919IH. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G27919IH. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054584", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054584" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 8 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G36581MF. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G36581MF. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054585", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054585" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 9 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G41742IZ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G41742IZ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054586", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054586" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 10 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G45889JQ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G45889JQ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054587", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054587" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 11 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G47606XQ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G47606XQ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054588", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054588" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 12 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G58667NI. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G58667NI. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054589", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054589" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 13 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G61334IA. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G61334IA. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054590", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054590" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 14 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G63640QH. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G63640QH. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054591", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054591" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 15 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G71367OV. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G71367OV. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054592", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054592" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 16 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G73408MO. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G73408MO. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054593", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054593" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 17 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G74838NI. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G74838NI. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054594", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054594" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 18 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G78059CC. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054595", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054595" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 19 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G80858MF. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G80858MF. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054596", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054596" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 20 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G82348BZ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G82348BZ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054597", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054597" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 21 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G85709JZ. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G85709JZ. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054598", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054598" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 22 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G86555OF. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G86555OF. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054599", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054599" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 23 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G87535DG. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G87535DG. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054600", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054600" } ] }, { "name": "chymotrypsin-like elastase family member 3B N-glycosylated 24 (human)", "definition": "A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G97765TT. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G97765TT. [PRO:DNx, PMID:1898343]", "evidence": [ { "id": "PR:000054601", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054601" } ] } ], "site_annotation": [ { "start_pos": 114, "end_pos": 116, "annotation": "n_glycosylation_sequon" }, { "start_pos": 153, "end_pos": 155, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 114 ], "o_linked_sites": [], "snv_sites": [ 116, 128, 170, 224, 247 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 114, "end_pos": 116 }, { "start_pos": 153, "end_pos": 155 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 41 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 40 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 40 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 40 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "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": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "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": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "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": 14 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }