{ "uniprot_canonical_ac": "P12259-1", "uniprot_ac": "P12259", "uniprot_id": "FA5_HUMAN", "mass": { "chemical_mass": 251703.0, "monoisotopic_mass": 251703.0 }, "refseq": { "ac": "NP_000121", "name": "coagulation factor V preproprotein", "summary": "This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" }, "gene_names": [ { "name": "F5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12259", "id": "P12259" }, { "name": "F5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121", "id": "NP_000121" }, { "name": "FVL; PCCF; RPRGL1; THPH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121", "id": "NP_000121" } ], "protein_names": [ { "name": "Coagulation factor V", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12259" }, { "name": "Activated protein C cofactor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12259" }, { "name": "Proaccelerin, labile factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12259" }, { "name": "coagulation factor V preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121", "id": "NP_000121" }, { "name": "factor V Leiden; activated protein c cofactor; coagulation factor V jinjiang A2 domain; coagulation factor V (proaccelerin, labile factor)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121", "id": "NP_000121" } ], "function": [ { "annotation": "Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259#function" } ] }, { "annotation": "Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" }, { "database": "PubMed", "id": "37053508", "url": "https://glygen.org/publication/PubMed/37053508" } ] }, { "annotation": "Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" }, { "database": "PubMed", "id": "37321256", "url": "https://glygen.org/publication/PubMed/37321256" } ] }, { "annotation": "IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" }, { "database": "PubMed", "id": "36946317", "url": "https://glygen.org/publication/PubMed/36946317" } ] }, { "annotation": "Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" }, { "database": "PubMed", "id": "37639740", "url": "https://glygen.org/publication/PubMed/37639740" } ] }, { "annotation": "This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" } ] }, { "annotation": "[The analysis of a pedigree with hereditary coagulation factor deficiency caused by compound heterozygous variation of F5 gene].", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" }, { "database": "PubMed", "id": "37150682", "url": "https://glygen.org/publication/PubMed/37150682" } ] } ], "disease": [ { "disease_id": "DOID:0111902", "recommended_name": { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to activated protein C resistance", "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." }, "synonyms": [ { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "APC resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PCCF deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PROC cofactor deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "THPH2", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "activated protein C resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia V", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to deficiency of activated protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 2 due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "APC resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Activated Protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Pccf deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Proc cofactor deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "THPH2", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "resistance, APC", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 5", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to ACTIVATED PROTEIN C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to Factor 5 Leiden", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to deficiency of Activated Protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia, susceptibility to, due to factor V Leiden", "description": "" }, { "id": "MIM:188055", "resource": "MIM", "url": "https://www.omim.org/entry/188055", "name": "Thrombophilia due to activated protein C resistance", "description": "Thrombophilia due to activated protein C resistance" } ], "evidence": [ { "id": "188055", "database": "MIM", "url": "https://www.omim.org/entry/188055" } ] }, { "disease_id": "DOID:11512", "recommended_name": { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." }, "synonyms": [ { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "hepatic vein thrombosis", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome, somatic", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "BDCHS", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of Inferior vena cava", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of the inferior vena cava", "description": "" }, { "id": "MIM:600880", "resource": "MIM", "url": "https://www.omim.org/entry/600880", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome" } ], "evidence": [ { "id": "600880", "database": "MIM", "url": "https://www.omim.org/entry/600880" } ] }, { "disease_id": "DOID:2216", "recommended_name": { "id": "DOID:2216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2216", "name": "factor V deficiency", "description": "" }, "synonyms": [ { "id": "DOID:2216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2216", "name": "Hereditary hypoproaccelerinaemia", "description": "" }, { "id": "DOID:2216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2216", "name": "Labile factor deficiency", "description": "" }, { "id": "DOID:2216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2216", "name": "Proaccelerin deficiency", "description": "" }, { "id": "DOID:2216", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2216", "name": "deficiency, labile", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "congenital factor V deficiency", "description": "Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms." }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "Owren disease", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "Parahemophilia", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "Proaccelerin deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "congenital factor V deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "deficiency, labile", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "hereditary Factor V deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "hereditary factor V deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "hereditary hypoproaccelerinaemia", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "labile factor deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "Owren Parahemophilia", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "factor 5 deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "factor V deficiency", "description": "" }, { "id": "MONDO:0009210", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009210", "name": "labile Factor deficiency", "description": "" }, { "id": "MIM:227400", "resource": "MIM", "url": "https://www.omim.org/entry/227400", "name": "Factor V deficiency", "description": "Factor V deficiency" } ], "evidence": [ { "id": "227400", "database": "MIM", "url": "https://www.omim.org/entry/227400" } ] }, { "disease_id": "DOID:3526", "recommended_name": { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." }, "synonyms": [ { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "CVA - Cerebral infarction", "description": "" }, { "id": "DOID:3526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3526", "name": "Cerebral infarct", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "obsolete susceptibility to ischemic stroke", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "ischemic stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, susceptibility to", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebral infarction", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "cerebrovascular accident", "description": "" }, { "id": "MONDO:0020671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020671", "name": "stroke, ischemic", "description": "" }, { "id": "MIM:601367", "resource": "MIM", "url": "https://www.omim.org/entry/601367", "name": "Ischemic stroke", "description": "Ischemic stroke" } ], "evidence": [ { "id": "601367", "database": "MIM", "url": "https://www.omim.org/entry/601367" } ] }, { "disease_id": "MONDO:0013727", "recommended_name": { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility to, 1", "description": "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." }, "synonyms": [ { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "F5 pregnancy loss, recurrent, susceptibility", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility caused by mutation in F5", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "pregnancy loss, recurrent, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "RPRGL1", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "Rpl", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "Rprgl", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "abortion, spontaneous, recurrent", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "embryonic loss, recurrent", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "fetal loss, recurrent, susceptibility to", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "foetal loss, recurrent, susceptibility to", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "miscarriage, recurrent", "description": "" }, { "id": "MONDO:0013727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013727", "name": "stillbirth, recurrent", "description": "" }, { "id": "MIM:614389", "resource": "MIM", "url": "https://www.omim.org/entry/614389", "name": "Pregnancy loss, recurrent, 1", "description": "Pregnancy loss, recurrent, 1" } ], "evidence": [ { "id": "614389", "database": "MIM", "url": "https://www.omim.org/entry/614389" } ] } ], "snv": [ { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 1103, "end_pos": 1103, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->SSS); n-glyco-sequon-gain (NQN->NQS).", "chr_id": "1", "chr_pos": "169541782", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N1103", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200363980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200363980" }, { "id": "rs200363980", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200363980" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1223, "end_pos": 1223, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLY); o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169541422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1481, "end_pos": 1481, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NES->NEY); o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169540648", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1481", "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" ] }, { "evidence": [ { "id": "rs201931929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201931929" }, { "id": "rs201931929", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201931929" }, { "id": "rs201931929", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201931929" }, { "id": "rs201931929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201931929#frequency_tab" }, { "id": "rs201931929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201931929" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 1559, "end_pos": 1559, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS); n-glyco-sequon-gain (NIN->NIS).", "chr_id": "1", "chr_pos": "169540414", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N1559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201931929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201931929" }, { "id": "rs201931929", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201931929" }, { "id": "rs201931929", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201931929" }, { "id": "rs201931929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201931929#frequency_tab" }, { "id": "rs201931929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201931929" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 1559, "end_pos": 1559, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->TSS); n-glyco-sequon-gain (NIN->NIT).", "chr_id": "1", "chr_pos": "169540414", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N1559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" }, { "id": "rs1457970490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457970490" }, { "id": "rs1457970490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1457970490#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1021, "end_pos": 1021, "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 (KKS->NKS).", "chr_id": "1", "chr_pos": "169542027", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1021", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196507883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196507883" }, { "id": "rs1196507883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196507883" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1053, "end_pos": 1053, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169541932", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1053", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1067, "end_pos": 1067, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "169541890", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1067", "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": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs369568295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369568295" }, { "id": "rs369568295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369568295" }, { "id": "rs369568295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369568295#frequency_tab" }, { "id": "rs369568295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369568295" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1074, "end_pos": 1074, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->DET).", "chr_id": "1", "chr_pos": "169541870", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200269019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200269019" }, { "id": "rs200269019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200269019" }, { "id": "rs200269019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200269019#frequency_tab" }, { "id": "rs200269019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200269019" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1074, "end_pos": 1074, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "1", "chr_pos": "169541869", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369568295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369568295" }, { "id": "rs369568295", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369568295" }, { "id": "rs369568295", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369568295#frequency_tab" }, { "id": "rs369568295", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369568295" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1074, "end_pos": 1074, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->YET).", "chr_id": "1", "chr_pos": "169541870", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1074", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1237861713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237861713" }, { "id": "rs1237861713", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1237861713#frequency_tab" }, { "id": "rs1237861713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1237861713" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1076, "end_pos": 1076, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEA).", "chr_id": "1", "chr_pos": "169541864", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1076", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376579337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376579337" }, { "id": "rs376579337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376579337" }, { "id": "rs376579337", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376579337#frequency_tab" }, { "id": "rs376579337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376579337" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1085, "end_pos": 1085, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQI).", "chr_id": "1", "chr_pos": "169541851", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1085", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs886045548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886045548" }, { "id": "rs886045548", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886045548" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1103, "end_pos": 1103, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->YSS).", "chr_id": "1", "chr_pos": "169541783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1103", "disease": [ { "disease_id": "DOID:11512", "recommended_name": { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." }, "synonyms": [ { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "hepatic vein thrombosis", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome, somatic", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "BDCHS", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of Inferior vena cava", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of the inferior vena cava", "description": "" }, { "id": "MIM:600880", "resource": "MIM", "url": "https://www.omim.org/entry/600880", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome" } ] }, { "disease_id": "DOID:0111902", "recommended_name": { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to activated protein C resistance", "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." }, "synonyms": [ { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "APC resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PCCF deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PROC cofactor deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "THPH2", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "activated protein C resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia V", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to deficiency of activated protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 2 due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "APC resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Activated Protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Pccf deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Proc cofactor deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "THPH2", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "resistance, APC", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 5", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to ACTIVATED PROTEIN C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to Factor 5 Leiden", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to deficiency of Activated Protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia, susceptibility to, due to factor V Leiden", "description": "" }, { "id": "MIM:188055", "resource": "MIM", "url": "https://www.omim.org/entry/188055", "name": "Thrombophilia due to activated protein C resistance", "description": "Thrombophilia due to activated protein C resistance" } ] }, { "disease_id": "DOID:2452", "recommended_name": { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots." }, "synonyms": [ { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "hypercoagulability state", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] }, { "disease_id": "DOID:0080701", "recommended_name": { "id": "DOID:0080701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080701", "name": "prothrombin thrombophilia", "description": "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11." }, "synonyms": [ { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1487650033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1487650033" }, { "id": "rs1487650033", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1487650033" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1108, "end_pos": 1108, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDN).", "chr_id": "1", "chr_pos": "169541767", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764100520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764100520" }, { "id": "rs764100520", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764100520" }, { "id": "rs764100520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764100520" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1120, "end_pos": 1120, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169541731", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369276714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369276714" }, { "id": "rs369276714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369276714" }, { "id": "rs369276714", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369276714#frequency_tab" }, { "id": "rs369276714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369276714" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1148, "end_pos": 1148, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "169541648", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1148", "disease": [ { "disease_id": "DOID:11512", "recommended_name": { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." }, "synonyms": [ { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "hepatic vein thrombosis", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome, somatic", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "BDCHS", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of Inferior vena cava", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of the inferior vena cava", "description": "" }, { "id": "MIM:600880", "resource": "MIM", "url": "https://www.omim.org/entry/600880", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome" } ] }, { "disease_id": "DOID:0111902", "recommended_name": { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to activated protein C resistance", "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." }, "synonyms": [ { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "APC resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PCCF deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PROC cofactor deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "THPH2", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "activated protein C resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia V", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to deficiency of activated protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 2 due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "APC resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Activated Protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Pccf deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Proc cofactor deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "THPH2", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "resistance, APC", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 5", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to ACTIVATED PROTEIN C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to Factor 5 Leiden", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to deficiency of Activated Protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia, susceptibility to, due to factor V Leiden", "description": "" }, { "id": "MIM:188055", "resource": "MIM", "url": "https://www.omim.org/entry/188055", "name": "Thrombophilia due to activated protein C resistance", "description": "Thrombophilia due to activated protein C resistance" } ] }, { "disease_id": "DOID:2452", "recommended_name": { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots." }, "synonyms": [ { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "hypercoagulability state", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] }, { "disease_id": "DOID:0080701", "recommended_name": { "id": "DOID:0080701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080701", "name": "prothrombin thrombophilia", "description": "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11." }, "synonyms": [ { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1150, "end_pos": 1150, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169541641", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1150", "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" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "169541608", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1161", "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" } ] }, { "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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1365877267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1365877267" }, { "id": "rs1365877267", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1365877267" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1184, "end_pos": 1184, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169541539", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1191, "end_pos": 1191, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->R).", "chr_id": "1", "chr_pos": "169541517", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1191", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1571574032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571574032" }, { "id": "rs1571574032", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571574032" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1194, "end_pos": 1194, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "169541510", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239361828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239361828" }, { "id": "rs1239361828", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239361828" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1196, "end_pos": 1196, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "169541503", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769509052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769509052" }, { "id": "rs769509052", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769509052" }, { "id": "rs769509052", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769509052" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1200, "end_pos": 1200, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169541491", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1396192834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396192834" }, { "id": "rs1396192834", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396192834" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1202, "end_pos": 1202, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "169541486", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1401033559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401033559" }, { "id": "rs1401033559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401033559#frequency_tab" }, { "id": "rs1401033559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401033559" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1202, "end_pos": 1202, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "1", "chr_pos": "169541485", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1401033559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401033559" }, { "id": "rs1401033559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401033559#frequency_tab" }, { "id": "rs1401033559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401033559" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1202, "end_pos": 1202, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->R).", "chr_id": "1", "chr_pos": "169541485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1557915264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557915264" }, { "id": "rs1557915264", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1557915264" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1209, "end_pos": 1209, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHT->NHT).", "chr_id": "1", "chr_pos": "169541464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140303718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140303718" }, { "id": "rs140303718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140303718" }, { "id": "rs140303718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140303718#frequency_tab" }, { "id": "rs140303718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140303718" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1211, "end_pos": 1211, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "169541459", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775893919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775893919" }, { "id": "rs775893919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775893919" }, { "id": "rs775893919", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775893919" }, { "id": "rs775893919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775893919#frequency_tab" }, { "id": "rs775893919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775893919" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1211, "end_pos": 1211, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "1", "chr_pos": "169541458", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1211", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1212, "end_pos": 1212, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "169541456", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T1212", "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" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1232, "end_pos": 1232, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169541395", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1232", "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs202098630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202098630" }, { "id": "rs202098630", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202098630" }, { "id": "rs202098630", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202098630" }, { "id": "rs202098630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202098630#frequency_tab" }, { "id": "rs202098630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202098630" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1247, "end_pos": 1247, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "169541351", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T1247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168854106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168854106" }, { "id": "rs1168854106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168854106" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1263, "end_pos": 1263, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169541302", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463847084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463847084" }, { "id": "rs1463847084", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463847084" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1265, "end_pos": 1265, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->R).", "chr_id": "1", "chr_pos": "169541296", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168854106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168854106" }, { "id": "rs1168854106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168854106" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1268, "end_pos": 1268, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169541302", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1279, "end_pos": 1279, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "1", "chr_pos": "169541255", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1279", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs543567093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543567093" }, { "id": "rs543567093", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543567093" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1282, "end_pos": 1282, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HTT->NTT).", "chr_id": "1", "chr_pos": "169541246", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "H1282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139573207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139573207" }, { "id": "rs139573207", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139573207" }, { "id": "rs139573207", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139573207" }, { "id": "rs139573207", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139573207#frequency_tab" }, { "id": "rs139573207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139573207" }, { "id": "23396385", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23396385" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1284, "end_pos": 1284, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169541239", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.001198", "site_lbl": "T1284", "disease": [ { "disease_id": "DOID:11512", "recommended_name": { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." }, "synonyms": [ { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "hepatic vein thrombosis", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome, somatic", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "BDCHS", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of Inferior vena cava", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of the inferior vena cava", "description": "" }, { "id": "MIM:600880", "resource": "MIM", "url": "https://www.omim.org/entry/600880", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome" } ] }, { "disease_id": "DOID:0111902", "recommended_name": { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to activated protein C resistance", "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." }, "synonyms": [ { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "APC resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PCCF deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PROC cofactor deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "THPH2", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "activated protein C resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia V", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to deficiency of activated protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 2 due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "APC resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Activated Protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Pccf deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Proc cofactor deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "THPH2", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "resistance, APC", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 5", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to ACTIVATED PROTEIN C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to Factor 5 Leiden", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to deficiency of Activated Protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia, susceptibility to, due to factor V Leiden", "description": "" }, { "id": "MIM:188055", "resource": "MIM", "url": "https://www.omim.org/entry/188055", "name": "Thrombophilia due to activated protein C resistance", "description": "Thrombophilia due to activated protein C resistance" } ] }, { "disease_id": "DOID:2452", "recommended_name": { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots." }, "synonyms": [ { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "hypercoagulability state", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] }, { "disease_id": "DOID:0080701", "recommended_name": { "id": "DOID:0080701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080701", "name": "prothrombin thrombophilia", "description": "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11." }, "synonyms": [ { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] } ], "keywords": [ "ebi", "somatic", "disease" ] }, { "evidence": [ { "id": "rs1571573570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571573570" }, { "id": "rs1571573570", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571573570" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1284, "end_pos": 1284, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "169541240", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755391107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391107" }, { "id": "rs755391107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391107" }, { "id": "rs755391107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755391107" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1290, "end_pos": 1290, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "169541222", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752005282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752005282" }, { "id": "rs752005282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752005282" }, { "id": "rs752005282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752005282" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1292, "end_pos": 1292, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "169541216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" }, { "id": "rs780542249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780542249" }, { "id": "rs780542249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780542249" }, { "id": "rs780542249", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780542249" }, { "id": "rs780542249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780542249" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1292, "end_pos": 1292, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169541215", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1292", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" }, { "id": "rs780542249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780542249" }, { "id": "rs780542249", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780542249" }, { "id": "rs780542249", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780542249" }, { "id": "rs780542249", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780542249" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1292, "end_pos": 1292, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->K).", "chr_id": "1", "chr_pos": "169541215", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1292", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571573488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571573488" }, { "id": "rs1571573488", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571573488" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1295, "end_pos": 1295, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "1", "chr_pos": "169541207", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755391107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391107" }, { "id": "rs755391107", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755391107" }, { "id": "rs755391107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755391107" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1295, "end_pos": 1295, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "169541222", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752430491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752430491" }, { "id": "rs752430491", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752430491" }, { "id": "rs752430491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752430491" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1300, "end_pos": 1300, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HMT->NMT).", "chr_id": "1", "chr_pos": "169541192", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1300", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs879074638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879074638" }, { "id": "rs879074638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs879074638#frequency_tab" }, { "id": "rs879074638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs879074638" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1308, "end_pos": 1308, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169541167", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1308", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs879158814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879158814" }, { "id": "rs879158814", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879158814" }, { "id": "rs879158814", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs879158814#frequency_tab" }, { "id": "rs879158814", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs879158814" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1310, "end_pos": 1310, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->R).", "chr_id": "1", "chr_pos": "169541161", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773391797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773391797" }, { "id": "rs773391797", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773391797" }, { "id": "rs773391797", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773391797#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1313, "end_pos": 1313, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "169541152", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs879074638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879074638" }, { "id": "rs879074638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs879074638#frequency_tab" }, { "id": "rs879074638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs879074638" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1313, "end_pos": 1313, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169541167", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777107479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777107479" }, { "id": "rs777107479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777107479" }, { "id": "rs777107479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777107479" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1322, "end_pos": 1322, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "169541125", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777107479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777107479" }, { "id": "rs777107479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777107479" }, { "id": "rs777107479", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777107479" }, { "id": "rs777107479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777107479" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1322, "end_pos": 1322, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169541125", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1327, "end_pos": 1327, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HTT->NTT).", "chr_id": "1", "chr_pos": "169541111", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1327", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1333622077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1333622077" }, { "id": "rs1333622077", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1333622077#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1329, "end_pos": 1329, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169541104", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1329", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751374986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751374986" }, { "id": "rs751374986", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751374986" }, { "id": "rs751374986", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751374986" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1329, "end_pos": 1329, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "169541105", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1329", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1363, "end_pos": 1363, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HTT->NTT).", "chr_id": "1", "chr_pos": "169541003", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1363", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751284881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751284881" }, { "id": "rs751284881", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751284881" }, { "id": "rs751284881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751284881" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1364, "end_pos": 1364, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169540999", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751284881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751284881" }, { "id": "rs751284881", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751284881" }, { "id": "rs751284881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751284881" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1364, "end_pos": 1364, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->R).", "chr_id": "1", "chr_pos": "169540999", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1364", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571573088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571573088" }, { "id": "rs1571573088", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571573088" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1371, "end_pos": 1371, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "1", "chr_pos": "169540978", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1385798558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385798558" }, { "id": "rs1385798558", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385798558" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1380, "end_pos": 1380, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "1", "chr_pos": "169540951", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441879713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441879713" }, { "id": "rs1441879713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441879713" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1398, "end_pos": 1398, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169540897", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1251729777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251729777" }, { "id": "rs1251729777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1251729777#frequency_tab" }, { "id": "rs1251729777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251729777" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1403, "end_pos": 1403, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169540882", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1251729777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251729777" }, { "id": "rs1251729777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1251729777#frequency_tab" }, { "id": "rs1251729777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251729777" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1403, "end_pos": 1403, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "169540882", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752854064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752854064" }, { "id": "rs752854064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752854064" }, { "id": "rs752854064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752854064#frequency_tab" }, { "id": "rs752854064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752854064" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1410, "end_pos": 1410, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169540861", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767725359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767725359" }, { "id": "rs767725359", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767725359" }, { "id": "rs767725359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767725359" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1419, "end_pos": 1419, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "1", "chr_pos": "169540850", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1189638440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1189638440" }, { "id": "rs1189638440", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1189638440#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1425, "end_pos": 1425, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFG->NFS).", "chr_id": "1", "chr_pos": "169540817", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144749395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144749395" }, { "id": "rs144749395", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144749395" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1499, "end_pos": 1499, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "chr_id": "1", "chr_pos": "169540594", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N1499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1557914285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557914285" }, { "id": "rs1557914285", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1557914285" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1501, "end_pos": 1501, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDP).", "chr_id": "1", "chr_pos": "169540589", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs56872536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs56872536" }, { "id": "rs56872536", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs56872536" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1516, "end_pos": 1516, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169540543", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S1516", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1373826993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373826993" }, { "id": "rs1373826993", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1373826993" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1520, "end_pos": 1520, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169540531", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1520", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201931929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201931929" }, { "id": "rs201931929", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201931929" }, { "id": "rs201931929", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201931929" }, { "id": "rs201931929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201931929#frequency_tab" }, { "id": "rs201931929", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201931929" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1559, "end_pos": 1559, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "1", "chr_pos": "169540414", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N1559", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" }, { "id": "rs914900338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914900338" }, { "id": "rs914900338", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs914900338" }, { "id": "rs914900338", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs914900338#frequency_tab" }, { "id": "rs914900338", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs914900338" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1625, "end_pos": 1625, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "1", "chr_pos": "169536604", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1625", "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" ] }, { "evidence": [ { "id": "rs1433281334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433281334" }, { "id": "rs1433281334", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433281334" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1703, "end_pos": 1703, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "1", "chr_pos": "169530886", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" }, { "id": "rs918497264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918497264" }, { "id": "rs918497264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs918497264" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1705, "end_pos": 1705, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->NSR).", "chr_id": "1", "chr_pos": "169530879", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1705", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs758751108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758751108" }, { "id": "rs758751108", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758751108" }, { "id": "rs758751108", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758751108#frequency_tab" }, { "id": "rs758751108", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758751108" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1854, "end_pos": 1854, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "1", "chr_pos": "169527953", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1854", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1460772257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460772257" }, { "id": "rs1460772257", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1460772257#frequency_tab" }, { "id": "rs1460772257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460772257" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1868, "end_pos": 1868, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "169526015", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1868", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752595310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752595310" }, { "id": "rs752595310", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752595310" }, { "id": "rs752595310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752595310" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1926, "end_pos": 1926, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->*).", "chr_id": "1", "chr_pos": "169524848", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1926", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1942, "end_pos": 1942, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "1", "chr_pos": "169523869", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1942", "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" ] }, { "evidence": [ { "id": "rs1351801804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351801804" }, { "id": "rs1351801804", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1351801804#frequency_tab" }, { "id": "rs1351801804", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351801804" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1976, "end_pos": 1976, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IQT->NQT).", "chr_id": "1", "chr_pos": "169523318", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1976", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753976756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753976756" }, { "id": "rs753976756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753976756" }, { "id": "rs753976756", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753976756#frequency_tab" }, { "id": "rs753976756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753976756" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2002, "end_pos": 2002, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "1", "chr_pos": "169523240", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I2002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs573523644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573523644" }, { "id": "rs573523644", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs573523644" }, { "id": "rs573523644", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs573523644" }, { "id": "rs573523644", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs573523644" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 2010, "end_pos": 2010, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->KST).", "chr_id": "1", "chr_pos": "169523215", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N2010", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1227290753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1227290753" }, { "id": "rs1227290753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1227290753" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 2010, "end_pos": 2010, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "1", "chr_pos": "169523216", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2010", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760076484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760076484" }, { "id": "rs760076484", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760076484" }, { "id": "rs760076484", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760076484" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2012, "end_pos": 2012, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "1", "chr_pos": "169523211", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761406114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761406114" }, { "id": "rs761406114", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761406114" }, { "id": "rs761406114", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761406114" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2016, "end_pos": 2016, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVM->NVT).", "chr_id": "1", "chr_pos": "169523198", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M2016", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs987775725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs987775725" }, { "id": "rs987775725", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs987775725#frequency_tab" }, { "id": "rs987775725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs987775725" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2066, "end_pos": 2066, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGC->NGS).", "chr_id": "1", "chr_pos": "169520532", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C2066", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2088, "end_pos": 2088, "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 (KKS->NKS).", "chr_id": "1", "chr_pos": "169518493", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2088", "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" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2132, "end_pos": 2132, "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 (KIT->NIT).", "chr_id": "1", "chr_pos": "169515576", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K2132", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs776991007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776991007" }, { "id": "rs776991007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776991007" }, { "id": "rs776991007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776991007" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2192, "end_pos": 2192, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFF->NFS).", "chr_id": "1", "chr_pos": "169514413", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2192", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1411336106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411336106" }, { "id": "rs1411336106", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411336106" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 225, "end_pos": 225, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "1", "chr_pos": "169559209", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 282, "end_pos": 282, "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 (KVS->NVS).", "chr_id": "1", "chr_pos": "169556752", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K282", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->C).", "chr_id": "1", "chr_pos": "169556669", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S310", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169556669", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S310", "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" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 331, "end_pos": 331, "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 (KKT->NKT).", "chr_id": "1", "chr_pos": "169555307", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K331", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1439527800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439527800" }, { "id": "rs1439527800", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439527800#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 338, "end_pos": 338, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "1", "chr_pos": "169555286", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [], "start_pos": 345, "end_pos": 345, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "169555267", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R345", "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" } ] }, { "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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1571584028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571584028" }, { "id": "rs1571584028", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571584028" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 384, "end_pos": 384, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NF*).", "chr_id": "1", "chr_pos": "169552702", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs118203911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203911" }, { "id": "rs118203911", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs118203911" }, { "id": "rs118203911", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203911" }, { "id": "14617013", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14617013" }, { "id": "14695241", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14695241" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 387, "end_pos": 387, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "1", "chr_pos": "169552693", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I387", "disease": [ { "disease_id": "DOID:0111902", "recommended_name": { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to activated protein C resistance", "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." }, "synonyms": [ { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "APC resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PCCF deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PROC cofactor deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "THPH2", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "activated protein C resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia V", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to deficiency of activated protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 2 due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "APC resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Activated Protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Pccf deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Proc cofactor deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "THPH2", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "resistance, APC", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 5", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to ACTIVATED PROTEIN C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to Factor 5 Leiden", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to deficiency of Activated Protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia, susceptibility to, due to factor V Leiden", "description": "" }, { "id": "MIM:188055", "resource": "MIM", "url": "https://www.omim.org/entry/188055", "name": "Thrombophilia due to activated protein C resistance", "description": "Thrombophilia due to activated protein C resistance" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs762404257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762404257" }, { "id": "rs762404257", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762404257" }, { "id": "rs762404257", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762404257" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 451, "end_pos": 451, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "1", "chr_pos": "169550684", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 453, "end_pos": 453, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "169550678", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S453", "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": "" } ] }, { "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" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs556266847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556266847" }, { "id": "rs556266847", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs556266847" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 461, "end_pos": 461, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS).", "chr_id": "1", "chr_pos": "169550655", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749569325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749569325" }, { "id": "rs749569325", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749569325" }, { "id": "rs749569325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749569325" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 462, "end_pos": 462, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSF).", "chr_id": "1", "chr_pos": "169550651", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S462", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778004101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778004101" }, { "id": "rs778004101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778004101" }, { "id": "rs778004101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778004101" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 471, "end_pos": 471, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTM->NTT).", "chr_id": "1", "chr_pos": "169550000", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M471", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335831778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335831778" }, { "id": "rs1335831778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335831778" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 53, "end_pos": 53, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSG).", "chr_id": "1", "chr_pos": "169586230", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S53", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571608340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571608340" }, { "id": "rs1571608340", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571608340" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 53, "end_pos": 53, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSN).", "chr_id": "1", "chr_pos": "169586229", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S53", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747716745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747716745" }, { "id": "rs747716745", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747716745" }, { "id": "rs747716745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747716745#frequency_tab" }, { "id": "rs747716745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747716745" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 556, "end_pos": 556, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKN).", "chr_id": "1", "chr_pos": "169546537", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S556", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756206405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756206405" }, { "id": "rs756206405", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756206405" }, { "id": "rs756206405", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756206405#frequency_tab" }, { "id": "rs756206405", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756206405" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 55, "end_pos": 55, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "1", "chr_pos": "169582518", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N55", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781434840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781434840" }, { "id": "rs781434840", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781434840" }, { "id": "rs781434840", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781434840#frequency_tab" }, { "id": "rs781434840", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781434840" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 55, "end_pos": 55, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "1", "chr_pos": "169582516", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N55", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751377893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751377893" }, { "id": "rs751377893", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751377893" }, { "id": "rs751377893", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751377893" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 564, "end_pos": 564, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "1", "chr_pos": "169546513", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N564", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779709744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779709744" }, { "id": "rs779709744", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779709744" }, { "id": "rs779709744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779709744" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 596, "end_pos": 596, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "1", "chr_pos": "169544484", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201087308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201087308" }, { "id": "rs201087308", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201087308" }, { "id": "rs201087308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201087308#frequency_tab" }, { "id": "rs201087308", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201087308" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 741, "end_pos": 741, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "1", "chr_pos": "169542867", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N741", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs144979314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144979314" }, { "id": "rs144979314", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs144979314" }, { "id": "rs144979314", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144979314" }, { "id": "rs144979314", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144979314#frequency_tab" }, { "id": "rs144979314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144979314" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 741, "end_pos": 741, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "1", "chr_pos": "169542868", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N741", "disease": [ { "disease_id": "DOID:11512", "recommended_name": { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." }, "synonyms": [ { "id": "DOID:11512", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11512", "name": "hepatic vein thrombosis", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava." }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "Budd-Chiari syndrome, somatic", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "BDCHS", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of Inferior vena cava", "description": "" }, { "id": "MONDO:0010947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010947", "name": "membranous obstruction of the inferior vena cava", "description": "" }, { "id": "MIM:600880", "resource": "MIM", "url": "https://www.omim.org/entry/600880", "name": "Budd-Chiari syndrome", "description": "Budd-Chiari syndrome" } ] }, { "disease_id": "DOID:0111902", "recommended_name": { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to activated protein C resistance", "description": "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2." }, "synonyms": [ { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "APC resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PCCF deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "PROC cofactor deficiency", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "THPH2", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "activated protein C resistance", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia V", "description": "" }, { "id": "DOID:0111902", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111902", "name": "thrombophilia due to deficiency of activated protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance." }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 2 due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to activated protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "APC resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Activated Protein C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Pccf deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "Proc cofactor deficiency", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "THPH2", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "resistance, APC", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia 5", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to ACTIVATED PROTEIN C resistance", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to Factor 5 Leiden", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia due to deficiency of Activated Protein C cofactor", "description": "" }, { "id": "MONDO:0008560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008560", "name": "thrombophilia, susceptibility to, due to factor V Leiden", "description": "" }, { "id": "MIM:188055", "resource": "MIM", "url": "https://www.omim.org/entry/188055", "name": "Thrombophilia due to activated protein C resistance", "description": "Thrombophilia due to activated protein C resistance" } ] }, { "disease_id": "DOID:2452", "recommended_name": { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots." }, "synonyms": [ { "id": "DOID:2452", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2452", "name": "hypercoagulability state", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] }, { "disease_id": "DOID:0080701", "recommended_name": { "id": "DOID:0080701", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080701", "name": "prothrombin thrombophilia", "description": "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11." }, "synonyms": [ { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "The formation of a blood clot (thrombus) in the lumen of a vein." }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "Venous thromboembolism", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to thrombin defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "THPH1", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "factor II-related thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "hyperprothrombinemia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "prothrombin G20210A thrombophilia", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thromboembolism, susceptibility to", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombophilia due to factor 2 defect", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "thrombosis, protection against", "description": "" }, { "id": "MONDO:0008559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008559", "name": "venous thrombosis", "description": "" }, { "id": "MIM:188050", "resource": "MIM", "url": "https://www.omim.org/entry/188050", "name": "Thrombophilia due to thrombin defect", "description": "Thrombophilia due to thrombin defect" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs764010406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764010406" }, { "id": "rs764010406", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764010406" }, { "id": "rs764010406", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764010406" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 743, "end_pos": 743, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NS*).", "chr_id": "1", "chr_pos": "169542862", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S743", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571576001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571576001" }, { "id": "rs1571576001", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571576001" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 743, "end_pos": 743, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSA).", "chr_id": "1", "chr_pos": "169542878", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S743", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 778, "end_pos": 778, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->NYF).", "chr_id": "1", "chr_pos": "169542757", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S778", "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" ] }, { "evidence": [ { "id": "rs368393190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368393190" }, { "id": "rs368393190", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs368393190" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 784, "end_pos": 784, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIF).", "chr_id": "1", "chr_pos": "169542754", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S784", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244263617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244263617" }, { "id": "rs1244263617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244263617#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 792, "end_pos": 792, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "1", "chr_pos": "169542716", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1244263617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1244263617" }, { "id": "rs1244263617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1244263617#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 792, "end_pos": 792, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "1", "chr_pos": "169542716", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178062116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178062116" }, { "id": "rs1178062116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178062116" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 804, "end_pos": 804, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "169542679", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T804", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469662743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469662743" }, { "id": "rs1469662743", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469662743#frequency_tab" }, { "id": "rs1469662743", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469662743" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 805, "end_pos": 805, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169542676", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T805", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 816, "end_pos": 816, "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 (KNS->NNS).", "chr_id": "1", "chr_pos": "169542642", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K816", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs367867100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367867100" }, { "id": "rs367867100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367867100" }, { "id": "rs367867100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367867100#frequency_tab" }, { "id": "rs367867100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367867100" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 821, "end_pos": 821, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->ISS).", "chr_id": "1", "chr_pos": "169542628", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N821", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [], "start_pos": 848, "end_pos": 848, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "169542548", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R848", "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" } ] }, { "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" } ] }, { "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" ] }, { "evidence": [ { "id": "rs367658863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658863" }, { "id": "rs367658863", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658863" }, { "id": "rs367658863", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367658863#frequency_tab" }, { "id": "rs367658863", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367658863" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 900, "end_pos": 900, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "169542391", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S900", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs367658863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658863" }, { "id": "rs367658863", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367658863" }, { "id": "rs367658863", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367658863#frequency_tab" }, { "id": "rs367658863", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367658863" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 900, "end_pos": 900, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169542391", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S900", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1275617894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275617894" }, { "id": "rs1275617894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275617894#frequency_tab" }, { "id": "22842228", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22842228" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 917, "end_pos": 917, "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "169542340", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S917", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs201040236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201040236" }, { "id": "rs201040236", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201040236" }, { "id": "rs201040236", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201040236" }, { "id": "rs201040236", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201040236#frequency_tab" }, { "id": "rs201040236", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201040236" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 917, "end_pos": 917, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "1", "chr_pos": "169542355", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S917", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 917, "end_pos": 917, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "169542340", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S917", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1374587296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374587296" }, { "id": "rs1374587296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374587296" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 938, "end_pos": 938, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->TSS).", "chr_id": "1", "chr_pos": "169542277", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N938", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770770778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770770778" }, { "id": "rs770770778", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770770778" }, { "id": "rs770770778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770770778" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 977, "end_pos": 977, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->KAS).", "chr_id": "1", "chr_pos": "169542159", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N977", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751863847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751863847" }, { "id": "rs751863847", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751863847" }, { "id": "rs751863847", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751863847" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 985, "end_pos": 985, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "1", "chr_pos": "169542136", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S985", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1210289722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210289722" }, { "id": "rs1210289722", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210289722" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 986, "end_pos": 986, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "169542133", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1571574862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571574862" }, { "id": "rs1571574862", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1571574862" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 986, "end_pos": 986, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "1", "chr_pos": "169542134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T986", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P12259", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 992, "end_pos": 992, "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 (NKP->NKS).", "chr_id": "1", "chr_pos": "169542116", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P992", "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" ] }, { "evidence": [ { "id": "rs1464144223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464144223" }, { "id": "rs1464144223", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1464144223#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 992, "end_pos": 992, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "1", "chr_pos": "169542116", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P992", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "67.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "65.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "61.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "64.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "53.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "68.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "60.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12259" } ], "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": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "common_name": "Human" } ], "gene": [ { "name": "F5", "url": "https://www.uniprot.org/uniprot/P12259", "locus": { "chromosome": "1", "start_pos": 169511951, "end_pos": 169586588, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198734", "url": "https://www.ensembl.org/id/ENSG00000198734" } ] } } ], "crossref": [ { "id": "ENSG00000198734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198734", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P12259", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12259", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00057", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00057", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14450", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14450", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14451", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14451", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14454", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14454", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3618", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3618", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "F5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=F5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2153", "url": "https://www.ncbi.nlm.nih.gov/gene/2153", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1120", "url": "https://glyconnect.expasy.org/browser/proteins/1120", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "3542", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3542", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P12259", "url": "https://www.ebi.ac.uk/intact/interactors/id:P12259*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000421", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000421", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008972", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008972", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008979", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008979", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011707", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011707", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024715", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024715", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033138", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033138", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2153", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2153", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "188055", "url": "http://www.omim.org/entry/188055", "database": "MIM", "categories": [ "Other" ] }, { "id": "227400", "url": "http://www.omim.org/entry/227400", "database": "MIM", "categories": [ "Other" ] }, { "id": "600880", "url": "http://www.omim.org/entry/600880", "database": "MIM", "categories": [ "Other" ] }, { "id": "601367", "url": "http://www.omim.org/entry/601367", "database": "MIM", "categories": [ "Other" ] }, { "id": "612309", "url": "http://www.omim.org/entry/612309", "database": "MIM", "categories": [ "Other" ] }, { "id": "614389", "url": "http://www.omim.org/entry/614389", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P12259", "url": "https://www.nextprot.org/entry/NX_P12259", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P12259", "url": "https://oglcnac.org/atlas/detail/P12259", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P12259", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12259", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GDYWEPS", "url": "https://omabrowser.org/oma/group/GDYWEPS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "537265at2759", "url": "http://www.orthodb.org/?query=537265at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46806", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46806", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46806:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46806:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1CZS", "url": "https://www.rcsb.org/structure/1CZS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1CZT", "url": "https://www.rcsb.org/structure/1CZT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1CZV", "url": "https://www.rcsb.org/structure/1CZV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P6Z", "url": "https://www.rcsb.org/structure/3P6Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P70", "url": "https://www.rcsb.org/structure/3P70", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3S9C", "url": "https://www.rcsb.org/structure/3S9C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KVE", "url": "https://www.rcsb.org/structure/7KVE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KVF", "url": "https://www.rcsb.org/structure/7KVF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KXY", "url": "https://www.rcsb.org/structure/7KXY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TPP", "url": "https://www.rcsb.org/structure/7TPP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TPQ", "url": "https://www.rcsb.org/structure/7TPQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FDG", "url": "https://www.rcsb.org/structure/8FDG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8TN9", "url": "https://www.rcsb.org/structure/8TN9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00754", "url": "http://pfam.xfam.org/family/PF00754", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07732", "url": "http://pfam.xfam.org/family/PF07732", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P12259", "url": "https://pharos.nih.gov/targets/P12259", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000054986", "url": "https://proconsortium.org/app/entry/PR:000054986", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054987", "url": "https://proconsortium.org/app/entry/PR:000054987", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054988", "url": "https://proconsortium.org/app/entry/PR:000054988", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054989", "url": "https://proconsortium.org/app/entry/PR:000054989", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054990", "url": "https://proconsortium.org/app/entry/PR:000054990", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054991", "url": "https://proconsortium.org/app/entry/PR:000054991", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054992", "url": "https://proconsortium.org/app/entry/PR:000054992", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054993", "url": "https://proconsortium.org/app/entry/PR:000054993", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054994", "url": "https://proconsortium.org/app/entry/PR:000054994", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054995", "url": "https://proconsortium.org/app/entry/PR:000054995", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054996", "url": "https://proconsortium.org/app/entry/PR:000054996", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054997", "url": "https://proconsortium.org/app/entry/PR:000054997", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054998", "url": "https://proconsortium.org/app/entry/PR:000054998", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000054999", "url": "https://proconsortium.org/app/entry/PR:000054999", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055000", "url": "https://proconsortium.org/app/entry/PR:000055000", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055001", "url": "https://proconsortium.org/app/entry/PR:000055001", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055002", "url": "https://proconsortium.org/app/entry/PR:000055002", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055003", "url": "https://proconsortium.org/app/entry/PR:000055003", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055004", "url": "https://proconsortium.org/app/entry/PR:000055004", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055005", "url": "https://proconsortium.org/app/entry/PR:000055005", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055006", "url": "https://proconsortium.org/app/entry/PR:000055006", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055007", "url": "https://proconsortium.org/app/entry/PR:000055007", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055008", "url": "https://proconsortium.org/app/entry/PR:000055008", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055009", "url": "https://proconsortium.org/app/entry/PR:000055009", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055010", "url": "https://proconsortium.org/app/entry/PR:000055010", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055011", "url": "https://proconsortium.org/app/entry/PR:000055011", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055012", "url": "https://proconsortium.org/app/entry/PR:000055012", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055013", "url": "https://proconsortium.org/app/entry/PR:000055013", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055014", "url": "https://proconsortium.org/app/entry/PR:000055014", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055015", "url": "https://proconsortium.org/app/entry/PR:000055015", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055016", "url": "https://proconsortium.org/app/entry/PR:000055016", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055017", "url": "https://proconsortium.org/app/entry/PR:000055017", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055018", "url": "https://proconsortium.org/app/entry/PR:000055018", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055019", "url": "https://proconsortium.org/app/entry/PR:000055019", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055020", "url": "https://proconsortium.org/app/entry/PR:000055020", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055021", "url": "https://proconsortium.org/app/entry/PR:000055021", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055022", "url": "https://proconsortium.org/app/entry/PR:000055022", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055023", "url": "https://proconsortium.org/app/entry/PR:000055023", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000055024", "url": "https://proconsortium.org/app/entry/PR:000055024", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P12259", "url": "http://purl.obolibrary.org/obo/PR_P12259", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8957275", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P12259", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0A0MRJ7", "url": "https://www.uniprot.org/uniprot/A0A0A0MRJ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MRJ7-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MRJ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12259-1", "url": "https://www.uniprot.org/uniprot/P12259-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGSPSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELSQTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFRARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY", "length": 2224, "header": "sp|P12259-1|FA5_HUMAN Isoform 1 of Coagulation factor V OS=Homo sapiens OX=9606 GN=F5 PE=1 SV=4 CANONICAL=P12259-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MRJ7-1", "url": "", "sequence": { "sequence": "MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSNFTLSAINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGSPSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELSQTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFRARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY", "length": 2229, "header": "tr|A0A0A0MRJ7-1|A0A0A0MRJ7_HUMAN Computationally mapped isoform of Coagulation factor V OS=Homo sapiens OX=9606 GN=F5 PE=1 SV=1 CANONICAL=P12259-1" }, "locus": { "chromosome": "1", "start_pos": 169586386, "end_pos": 169514316, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367796.3", "url": "https://www.ensembl.org/id/ENST00000367796.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000356770.3", "url": "https://www.ensembl.org/id/ENSP00000356770.3" } ] } }, { "isoform_ac": "P12259-1", "url": "", "sequence": { "sequence": "MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGSPSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELSQTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFRARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY", "length": 2224, "header": "sp|P12259-1|FA5_HUMAN Isoform 1 of Coagulation factor V OS=Homo sapiens OX=9606 GN=F5 PE=1 SV=4 CANONICAL=P12259-1" }, "locus": { "chromosome": "1", "start_pos": 169586386, "end_pos": 169514316, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367797.9", "url": "https://www.ensembl.org/id/ENST00000367797.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000356771.3", "url": "https://www.ensembl.org/id/ENSP00000356771.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1044, "start_aa": "Ser", "end_pos": 1044, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1044", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1044, "start_aa": "Ser", "end_pos": 1044, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1044", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1044, "start_aa": "Ser", "end_pos": 1044, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1044", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1044, "start_aa": "Ser", "end_pos": 1044, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1044", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1044, "start_aa": "Ser", "end_pos": 1044, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1044", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1047, "start_aa": "Thr", "end_pos": 1047, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1047", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1047, "start_aa": "Thr", "end_pos": 1047, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1047", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1047, "start_aa": "Thr", "end_pos": 1047, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1047", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1047, "start_aa": "Thr", "end_pos": 1047, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1047", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1053, "start_aa": "Ser", "end_pos": 1053, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G22140GZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G72291OX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1074, "start_aa": "Asn", "end_pos": 1074, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1074", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1083, "start_aa": "Asn", "end_pos": 1083, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1083", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1103, "start_aa": "Asn", "end_pos": 1103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1103", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1106, "start_aa": "Asn", "end_pos": 1106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1106", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1120, "start_aa": "Thr", "end_pos": 1120, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1120", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1129, "start_aa": "Thr", "end_pos": 1129, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1129", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1148, "start_aa": "Ser", "end_pos": 1148, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1148", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1148, "start_aa": "Ser", "end_pos": 1148, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1148", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SSSPELSEMLEYDR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1148, "start_aa": "Ser", "end_pos": 1161, "end_aa": "Arg", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G63628AV", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1150, "start_aa": "Ser", "end_pos": 1150, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1150", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1184, "start_aa": "Thr", "end_pos": 1184, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1184", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1187, "start_aa": "Ser", "end_pos": 1187, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1187", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1191, "start_aa": "Ser", "end_pos": 1191, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1191", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1194, "start_aa": "Thr", "end_pos": 1194, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1194", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1194, "start_aa": "Thr", "end_pos": 1194, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1194", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1196, "start_aa": "Ser", "end_pos": 1196, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1196", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1200, "start_aa": "Ser", "end_pos": 1200, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1200", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1202, "start_aa": "Thr", "end_pos": 1202, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1202", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1202, "start_aa": "Thr", "end_pos": 1202, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1202", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G27391WQ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G58001LT", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1211, "start_aa": "Thr", "end_pos": 1211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1211", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1212, "start_aa": "Thr", "end_pos": 1212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1212", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1212, "start_aa": "Thr", "end_pos": 1212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1212", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1221, "start_aa": "Asn", "end_pos": 1221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1221", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G82463GQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1221, "start_aa": "Asn", "end_pos": 1221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1221", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1221, "start_aa": "Asn", "end_pos": 1221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1221", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1223, "start_aa": "Ser", "end_pos": 1223, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1223", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1232, "start_aa": "Ser", "end_pos": 1232, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1232", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1238, "start_aa": "Thr", "end_pos": 1238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1238", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1238, "start_aa": "Thr", "end_pos": 1238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1238", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1238, "start_aa": "Thr", "end_pos": 1238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1238", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1238, "start_aa": "Thr", "end_pos": 1238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1238", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1238, "start_aa": "Thr", "end_pos": 1238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1238", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1239, "start_aa": "Thr", "end_pos": 1239, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1239", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1239, "start_aa": "Thr", "end_pos": 1239, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1239", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G63628AV", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1247, "start_aa": "Thr", "end_pos": 1247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1247", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1263, "start_aa": "Ser", "end_pos": 1263, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1263", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1263, "start_aa": "Ser", "end_pos": 1263, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1263", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1265, "start_aa": "Thr", "end_pos": 1265, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1265", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1265, "start_aa": "Thr", "end_pos": 1265, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1265", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1268, "start_aa": "Ser", "end_pos": 1268, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1268", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1268, "start_aa": "Ser", "end_pos": 1268, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1268", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1277, "start_aa": "Ser", "end_pos": 1277, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1277", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1283, "start_aa": "Thr", "end_pos": 1283, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1283", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1283, "start_aa": "Thr", "end_pos": 1283, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1283", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1283, "start_aa": "Thr", "end_pos": 1283, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1283", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1283, "start_aa": "Thr", "end_pos": 1283, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1283", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1284, "start_aa": "Thr", "end_pos": 1284, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1284", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1290, "start_aa": "Ser", "end_pos": 1290, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1290", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1290, "start_aa": "Ser", "end_pos": 1290, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1290", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1292, "start_aa": "Thr", "end_pos": 1292, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1292", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1292, "start_aa": "Thr", "end_pos": 1292, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1292", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1295, "start_aa": "Ser", "end_pos": 1295, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1295", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1299, "start_aa": "Ser", "end_pos": 1299, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1299", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1302, "start_aa": "Thr", "end_pos": 1302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1302", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1302, "start_aa": "Thr", "end_pos": 1302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1302", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1302, "start_aa": "Thr", "end_pos": 1302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1302", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1302, "start_aa": "Thr", "end_pos": 1302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1302", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1302, "start_aa": "Thr", "end_pos": 1302, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1302", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1304, "start_aa": "Ser", "end_pos": 1304, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1304", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1308, "start_aa": "Ser", "end_pos": 1308, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1308", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1308, "start_aa": "Ser", "end_pos": 1308, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1308", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1310, "start_aa": "Thr", "end_pos": 1310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1310", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1310, "start_aa": "Thr", "end_pos": 1310, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1310", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1313, "start_aa": "Ser", "end_pos": 1313, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1313", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1313, "start_aa": "Ser", "end_pos": 1313, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1313", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1322, "start_aa": "Ser", "end_pos": 1322, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1322", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1329, "start_aa": "Thr", "end_pos": 1329, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1329", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1364, "start_aa": "Thr", "end_pos": 1364, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1364", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1398, "start_aa": "Ser", "end_pos": 1398, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1398", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1403, "start_aa": "Thr", "end_pos": 1403, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1403", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1410, "start_aa": "Thr", "end_pos": 1410, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1410", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1418, "start_aa": "Thr", "end_pos": 1418, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1418", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1479, "start_aa": "Asn", "end_pos": 1479, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1479", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1481, "start_aa": "Ser", "end_pos": 1481, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1481", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1481, "start_aa": "Ser", "end_pos": 1481, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1481", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1499, "start_aa": "Asn", "end_pos": 1499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1499", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1516, "start_aa": "Ser", "end_pos": 1516, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1516", "evidence": [ { "id": "P12259", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12259" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P12259", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12259" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1520, "start_aa": "Thr", "end_pos": 1520, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1520", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1520, "start_aa": "Thr", "end_pos": 1520, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1520", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1559, "start_aa": "Asn", "end_pos": 1559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1559", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1559, "start_aa": "Asn", "end_pos": 1559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1559", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G70418MS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1559, "start_aa": "Asn", "end_pos": 1559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1559", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G78790NZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1559, "start_aa": "Asn", "end_pos": 1559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1559", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G91473PK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1559, "start_aa": "Asn", "end_pos": 1559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1559", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1559, "start_aa": "Asn", "end_pos": 1559, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1559", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1594, "start_aa": "Ser", "end_pos": 1594, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1594", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1594, "start_aa": "Ser", "end_pos": 1594, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1594", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1594, "start_aa": "Ser", "end_pos": 1594, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1594", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1594, "start_aa": "Ser", "end_pos": 1594, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1594", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1698, "start_aa": "Asn", "end_pos": 1698, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1698", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G57888GL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1698, "start_aa": "Asn", "end_pos": 1698, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1698", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G62461SM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1698, "start_aa": "Asn", "end_pos": 1698, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1698", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1703, "start_aa": "Asn", "end_pos": 1703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1703", "evidence": [ { "id": "P12259@N1703", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P12259@N1703" } ] }, { "glytoucan_ac": "G05933EN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1703, "start_aa": "Asn", "end_pos": 1703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1703", "evidence": [ { "id": "P12259@N1703", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P12259@N1703" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1703, "start_aa": "Asn", "end_pos": 1703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1703", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1703, "start_aa": "Asn", "end_pos": 1703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1703", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1703, "start_aa": "Asn", "end_pos": 1703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1703", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1703, "start_aa": "Asn", "end_pos": 1703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1703", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1868, "start_aa": "Ser", "end_pos": 1868, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1868", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1868, "start_aa": "Ser", "end_pos": 1868, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1868", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1926, "start_aa": "Ser", "end_pos": 1926, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1926", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1926, "start_aa": "Ser", "end_pos": 1926, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1926", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1926, "start_aa": "Ser", "end_pos": 1926, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1926", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 1926, "start_aa": "Ser", "end_pos": 1926, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1926", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G49644CL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 1990, "start_aa": "Thr", "end_pos": 1990, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1990", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 2010, "start_aa": "Asn", "end_pos": 2010, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2010", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 2053, "start_aa": "Thr", "end_pos": 2053, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 2053, "start_aa": "Thr", "end_pos": 2053, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2053", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G31433PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2064, "start_aa": "Asn", "end_pos": 2064, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2064", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G39595FH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2064, "start_aa": "Asn", "end_pos": 2064, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2064", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "automatic_literature_mining", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2181, "start_aa": "Asn", "end_pos": 2181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2181", "evidence": [ { "id": "10471296", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/10471296" }, { "id": "10471296", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10471296" }, { "id": "12624624", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12624624" }, { "id": "12624624", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12624624" } ] }, { "glytoucan_ac": "G35305EF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G55383ZG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G78790NZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G81263BG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G99966GV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 2209, "start_aa": "Asn", "end_pos": 2209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2209", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 239, "start_aa": "Asn", "end_pos": 239, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn239", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G08606CV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G23453IV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G31916IQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G56784JY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57776ZU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "16263699", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16263699" } ] }, { "glytoucan_ac": "G00033MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 310, "start_aa": "Ser", "end_pos": 310, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser310", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G32550BI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 310, "start_aa": "Ser", "end_pos": 310, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser310", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G03382KH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10256JP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29880MM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G34730YF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G51895WL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G55220VL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G70418MS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G82463GQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G98205FV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G99858XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 460, "start_aa": "Asn", "end_pos": 460, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn460", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G22140GZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G34730YF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G47748JZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 468, "start_aa": "Asn", "end_pos": 468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn468", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G08606CV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G31916IQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G72735IY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G80966KZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G82119TF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 554, "start_aa": "Asn", "end_pos": 554, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn554", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 55, "start_aa": "Asn", "end_pos": 55, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn55", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 741, "start_aa": "Asn", "end_pos": 741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn741", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G23453IV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 752, "start_aa": "Asn", "end_pos": 752, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn752", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G27993JQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 752, "start_aa": "Asn", "end_pos": 752, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn752", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 752, "start_aa": "Asn", "end_pos": 752, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn752", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 760, "start_aa": "Asn", "end_pos": 760, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn760", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 776, "start_aa": "Asn", "end_pos": 776, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn776", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 782, "start_aa": "Asn", "end_pos": 782, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn782", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "FTVNNLAEPQKAPSHQQATTAGSPLR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 786, "start_aa": "Phe", "end_pos": 811, "end_aa": "Arg", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "APSHQQATTAGSPLR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 797, "start_aa": "Ala", "end_pos": 811, "end_aa": "Arg", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "28035807", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28035807" }, { "id": "10.1021/acs.analchem.6b02887", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 804, "start_aa": "Thr", "end_pos": 804, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr804", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 804, "start_aa": "Thr", "end_pos": 804, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr804", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" }, { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 805, "start_aa": "Thr", "end_pos": 805, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr805", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P12259@N821", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P12259@N821" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 821, "start_aa": "Asn", "end_pos": 821, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn821", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 832, "start_aa": "Ser", "end_pos": 832, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser832", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 851, "start_aa": "Ser", "end_pos": 851, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser851", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 898, "start_aa": "Thr", "end_pos": 898, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr898", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 898, "start_aa": "Thr", "end_pos": 898, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr898", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 900, "start_aa": "Ser", "end_pos": 900, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser900", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 917, "start_aa": "Ser", "end_pos": 917, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser917", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 917, "start_aa": "Ser", "end_pos": 917, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser917", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G33791AF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G34617SM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G41882MT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G50757KG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G66760KM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G72667IM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81263BG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G93656SY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G98205FV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 938, "start_aa": "Asn", "end_pos": 938, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn938", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 977, "start_aa": "Asn", "end_pos": 977, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn977", "evidence": [ { "id": "P12259", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "G00031MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G10225UW", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G39558MO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 985, "start_aa": "Ser", "end_pos": 985, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser985", "evidence": [ { "id": "1120", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1120" }, { "id": "32310329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 986, "start_aa": "Thr", "end_pos": 986, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr986", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 986, "start_aa": "Thr", "end_pos": 986, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr986", "evidence": [ { "id": "P12259", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] } ], "phosphorylation": [ { "start_pos": 1047, "end_pos": 1047, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr1047" }, { "start_pos": 1053, "end_pos": 1053, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser1053" }, { "start_pos": 1056, "end_pos": 1056, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Tyr1056" }, { "start_pos": 1058, "end_pos": 1058, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr1058" }, { "start_pos": 1148, "end_pos": 1148, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser1148" }, { "start_pos": 1150, "end_pos": 1150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "phospho.ELM", "id": "P12259", "url": "http://phospho.elm.eu.org/byAccession/P12259.html" } ], "site_lbl": "Ser1150" }, { "start_pos": 640, "end_pos": 640, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "site_lbl": "Thr640" }, { "start_pos": 692, "end_pos": 692, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "19824718", "url": "https://glygen.org/publication/PubMed/19824718" }, { "database": "PubMed", "id": "9525959", "url": "https://glygen.org/publication/PubMed/9525959" } ], "site_lbl": "Ser692" }, { "start_pos": 692, "end_pos": 692, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P12259", "url": "http://phospho.elm.eu.org/byAccession/P12259.html" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "9525959", "url": "https://glygen.org/publication/PubMed/9525959" } ], "site_lbl": "Ser692" }, { "start_pos": 693, "end_pos": 693, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "19824718", "url": "https://glygen.org/publication/PubMed/19824718" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Tyr693" }, { "start_pos": 720, "end_pos": 720, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P12259", "url": "http://phospho.elm.eu.org/byAccession/P12259.html" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "9525959", "url": "https://glygen.org/publication/PubMed/9525959" }, { "database": "PubMed", "id": "14594814", "url": "https://glygen.org/publication/PubMed/14594814" } ], "site_lbl": "Ser720" }, { "start_pos": 859, "end_pos": 859, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ], "site_lbl": "Ser859" }, { "start_pos": 955, "end_pos": 955, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser955" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Proteomics Analysis of O-GalNAc Glycosylation in Human Serum by an Integrated Strategy", "journal": "Anal. Chem.", "date": "2017", "authors": "Qin H., Cheng K., Zhu J., Mao J., Wang F., Dong M., Chen R., Guo Z., Liang X., Ye M., Zou H.", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1021/acs.analchem.6b02887", "url": "https://glygen.org/publication/DOI/10.1021/acs.analchem.6b02887" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "Relocating the active site of activated protein C eliminates the need for its protein S cofactor. A fluorescence resonance energy transfer study.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yegneswaran S, Smirnov MD, Safa O, Esmon NL, Esmon CT, Johnson AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "10026158", "url": "https://glygen.org/publication/PubMed/10026158" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10077652", "url": "https://glygen.org/publication/PubMed/10077652" } ] }, { "title": "The cleavage site specificity of human prostate specific antigen for insulin-like growth factor binding protein-3.", "journal": "FEBS letters", "date": "1999", "authors": "Okabe E, Kajihara J, Usami Y, Hirano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10218588", "url": "https://glygen.org/publication/PubMed/10218588" } ] }, { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nature genetics", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "NSF N-terminal domain crystal structure: models of NSF function.", "journal": "Molecular cell", "date": "1999", "authors": "Yu RC, Jahn R, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "Partial glycosylation at asparagine-2181 of the second C-type domain of human factor V modulates assembly of the prothrombinase complex.", "journal": "Biochemistry", "date": "1999", "authors": "Kim SW, Ortel TL, Quinn-Allen MA, Yoo L, Worfolk L, Zhai X, Lentz BR, Kane WH", "evidence": [ { "database": "Automatic Literature Mining", "id": "10471296", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/10471296" } ], "reference": [ { "type": "PubMed", "id": "10471296", "url": "https://glygen.org/publication/PubMed/10471296" } ] }, { "title": "Inflammation-related neutrophil proteases, cathepsin G and elastase, function as insulin-like growth factor binding protein proteases.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1999", "authors": "Gibson TL, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10512690", "url": "https://glygen.org/publication/PubMed/10512690" } ] }, { "title": "The lectin ERGIC-53 is a cargo transport receptor for glycoproteins.", "journal": "Nature cell biology", "date": "1999", "authors": "Appenzeller C, Andersson H, Kappeler F, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "10559958", "url": "https://glygen.org/publication/PubMed/10559958" } ] }, { "title": "An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.", "journal": "Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "Crystal structures of the membrane-binding C2 domain of human coagulation factor V.", "journal": "Nature", "date": "1999", "authors": "Macedo-Ribeiro S, Bode W, Huber R, Quinn-Allen M A, Kim S W, Ortel T L, Bourenkov G P, Bartunik H D, Stubbs M T, Kane W H, Fuentes-Prior P", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "10586886", "url": "https://glygen.org/publication/PubMed/10586886" } ] }, { "title": "A central domain binding site in insulin-like growth factor binding protein-5 for the acid-labile subunit.", "journal": "Endocrinology", "date": "2000", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10614670", "url": "https://glygen.org/publication/PubMed/10614670" } ] }, { "title": "ERGIC-53 and traffic in the secretory pathway.", "journal": "Journal of cell science", "date": "2000", "authors": "Hauri HP, Kappeler F, Andersson H, Appenzeller C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "10652252", "url": "https://glygen.org/publication/PubMed/10652252" } ] }, { "title": "The role of the tethering proteins p115 and GM130 in transport through the Golgi apparatus in vivo.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Seemann J, Jokitalo EJ, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10679020", "url": "https://glygen.org/publication/PubMed/10679020" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP)-3-bound IGF-I and IGFBP-3-bound IGF-II in growth hormone deficiency.", "journal": "Hormone research", "date": "1999", "authors": "Belgorosky A, Rivarola MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10681634", "url": "https://glygen.org/publication/PubMed/10681634" } ] }, { "title": "Asymmetric requirements for a Rab GTPase and SNARE proteins in fusion of COPII vesicles with acceptor membranes.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Cao X, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10747087", "url": "https://glygen.org/publication/PubMed/10747087" } ] }, { "title": "Binding characteristics of pro-insulin-like growth factor-II from cancer patients: binary and ternary complex formation with IGF binding proteins-1 to -6.", "journal": "The Journal of endocrinology", "date": "2000", "authors": "Bond JJ, Meka S, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10810289", "url": "https://glygen.org/publication/PubMed/10810289" } ] }, { "title": "COPI-coated ER-to-Golgi transport complexes segregate from COPII in close proximity to ER exit sites.", "journal": "Journal of cell science", "date": "2000", "authors": "Stephens DJ, Lin-Marq N, Pagano A, Pepperkok R, Paccaud JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10825291", "url": "https://glygen.org/publication/PubMed/10825291" } ] }, { "title": "Evidence that the interaction between insulin-like growth factor (IGF)-II and IGF binding protein (IGFBP)-4 is essential for the action of the IGF-II-dependent IGFBP-4 protease.", "journal": "Archives of biochemistry and biophysics", "date": "2000", "authors": "Qin X, Byun D, Lau KH, Baylink DJ, Mohan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10898936", "url": "https://glygen.org/publication/PubMed/10898936" } ] }, { "title": "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Allan BB, Moyer BD, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10903204", "url": "https://glygen.org/publication/PubMed/10903204" } ] }, { "title": "Effects of IGFBP-2 overexpression in vitro and in vivo.", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "2000", "authors": "Wolf E, Lahm H, Wu M, Wanke R, Hoeflich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10912521", "url": "https://glygen.org/publication/PubMed/10912521" } ] }, { "title": "Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family.", "journal": "Blood", "date": "2000", "authors": "Castoldi E, Simioni P, Kalafatis M, Lunghi B, Tormene D, Girelli D, Girolami A, Bernardi F", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "10942390", "url": "https://glygen.org/publication/PubMed/10942390" } ] }, { "title": "O-glycosylation of insulin-like growth factor (IGF) binding protein-6 maintains high IGF-II binding affinity by decreasing binding to glycosaminoglycans and susceptibility to proteolysis.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Marinaro JA, Neumann GM, Russo VC, Leeding KS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10951195", "url": "https://glygen.org/publication/PubMed/10951195" } ] }, { "title": "Dynamics of transitional endoplasmic reticulum sites in vertebrate cells.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Hammond AT, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "10982397", "url": "https://glygen.org/publication/PubMed/10982397" } ] }, { "title": "Prostate carcinoma (PC-3) cell proliferation is stimulated by the 22-25-kDa proteolytic fragment (1-160) and inhibited by the 16-kDa fragment (1-95) of recombinant human insulin-like growth factor binding protein-3.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1998", "authors": "Angelloz-Nicoud P, Lalou C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10990447", "url": "https://glygen.org/publication/PubMed/10990447" } ] }, { "title": "Mutations in coagulation factors in women with unexplained late fetal loss.", "journal": "N. Engl. J. Med.", "date": "2000", "authors": "Martinelli I, Taioli E, Cetin I, Marinoni A, Gerosa S, Villa M V, Bozzo M, Mannucci P M", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "11018168", "url": "https://glygen.org/publication/PubMed/11018168" } ] }, { "title": "Subunit structure of a mammalian ER/Golgi SNARE complex.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Xu D, Joglekar AP, Williams AL, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11035026", "url": "https://glygen.org/publication/PubMed/11035026" } ] }, { "title": "The soluble endothelial protein C receptor binds to activated neutrophils: involvement of proteinase-3 and CD11b/CD18.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Kurosawa S, Esmon CT, Stearns-Kurosawa DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "11035113", "url": "https://glygen.org/publication/PubMed/11035113" } ] }, { "title": "Pregnancy-associated plasma protein-A accounts for the insulin-like growth factor (IGF)-binding protein-4 (IGFBP-4) proteolytic activity in human pregnancy serum and enhances the mitogenic activity of IGF by degrading IGFBP-4 in vitro.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Byun D, Mohan S, Yoo M, Sexton C, Baylink DJ, Qin X", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11158056", "url": "https://glygen.org/publication/PubMed/11158056" } ] }, { "title": "Endothelial cell protein C receptor plays an important role in protein C activation in vivo.", "journal": "Blood", "date": "2001", "authors": "Taylor FB Jr, Peer GT, Lockhart MS, Ferrell G, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "11238108", "url": "https://glygen.org/publication/PubMed/11238108" } ] }, { "title": "Ligand-binding characteristics of recombinant amino- and carboxyl-terminal fragments of human insulin-like growth factor-binding protein-3.", "journal": "The Journal of endocrinology", "date": "2001", "authors": "Galanis M, Firth SM, Bond J, Nathanielsz A, Kortt AA, Hudson PJ, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11250653", "url": "https://glygen.org/publication/PubMed/11250653" } ] }, { "title": "Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Overgaard MT, Boldt HB, Laursen LS, Sottrup-Jensen L, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11264294", "url": "https://glygen.org/publication/PubMed/11264294" } ] }, { "title": "Rab1 interaction with a GM130 effector complex regulates COPII vesicle cis--Golgi tethering.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2001", "authors": "Moyer BD, Allan BB, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11285137", "url": "https://glygen.org/publication/PubMed/11285137" } ] }, { "title": "The Golgi matrix protein GM130: a specific interacting partner of the small GTPase rab1b.", "journal": "EMBO reports", "date": "2001", "authors": "Weide T, Bayer M, Koster M, Siebrasse JP, Peters R, Barnekow A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11306556", "url": "https://glygen.org/publication/PubMed/11306556" } ] }, { "title": "Mutagenesis of basic amino acids in the carboxyl-terminal region of insulin-like growth factor binding protein-5 affects acid-labile subunit binding.", "journal": "Endocrinology", "date": "2001", "authors": "Firth SM, Clemmons DR, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11316783", "url": "https://glygen.org/publication/PubMed/11316783" } ] }, { "title": "Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.", "journal": "Blood", "date": "2001", "authors": "van Wijk R, Nieuwenhuis K, van den Berg M, Huizinga EG, van der Meijden BB, Kraaijenhagen RJ, van Solinge WW", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "11435304", "url": "https://glygen.org/publication/PubMed/11435304" } ] }, { "title": "Pregnancy-associated plasma protein-A (PAPP-A) cleaves insulin-like growth factor binding protein (IGFBP)-5 independent of IGF: implications for the mechanism of IGFBP-4 proteolysis by PAPP-A.", "journal": "FEBS letters", "date": "2001", "authors": "Laursen LS, Overgaard MT, Soe R, Boldt HB, Sottrup-Jensen L, Giudice LC, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11522292", "url": "https://glygen.org/publication/PubMed/11522292" } ] }, { "title": "Insulin-like growth factor-binding protein-5 inhibits growth and induces differentiation of mouse osteosarcoma cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Schneider MR, Zhou R, Hoeflich A, Krebs O, Schmidt J, Mohan S, Wolf E, Lahm H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11606061", "url": "https://glygen.org/publication/PubMed/11606061" } ] }, { "title": "IGFBP-3 binding to endothelial cells inhibits plasmin and thrombin proteolysis.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2002", "authors": "Booth BA, Boes M, Dake BL, Knudtson KL, Bar RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11739083", "url": "https://glygen.org/publication/PubMed/11739083" } ] }, { "title": "Insulin-like growth factor-binding protein 2 in tumorigenesis: protector or promoter?", "journal": "Cancer research", "date": "2001", "authors": "Hoeflich A, Reisinger R, Lahm H, Kiess W, Blum WF, Kolb HJ, Weber MM, Wolf E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11751371", "url": "https://glygen.org/publication/PubMed/11751371" } ] }, { "title": "Studies on hereditary deficiency of coagulation factor V.", "journal": "Zhonghua Xue Ye Xue Za Zhi", "date": "2001", "authors": "Xie F, Cheng F, Zhu X", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "11758222", "url": "https://glygen.org/publication/PubMed/11758222" } ] }, { "title": "Molecular distribution of IGF binding protein-5 in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Baxter RC, Meka S, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11788658", "url": "https://glygen.org/publication/PubMed/11788658" } ] }, { "title": "Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding.", "journal": "Thrombosis and haemostasis", "date": "2002", "authors": "Schrijver I, Houissa-Kastally R, Jones CD, Garcia KC, Zehnder JL", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "11858490", "url": "https://glygen.org/publication/PubMed/11858490" } ] }, { "title": "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "11927603", "url": "https://glygen.org/publication/PubMed/11927603" } ] }, { "title": "Activation of endothelial cell protease activated receptor 1 by the protein C pathway.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Riewald M, Petrovan RJ, Donner A, Mueller BM, Ruf W", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "12052963", "url": "https://glygen.org/publication/PubMed/12052963" } ] }, { "title": "Sequential SNARE disassembly and GATE-16-GOS-28 complex assembly mediated by distinct NSF activities drives Golgi membrane fusion.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Muller JM, Shorter J, Newman R, Deinhardt K, Sagiv Y, Elazar Z, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "12070132", "url": "https://glygen.org/publication/PubMed/12070132" } ] }, { "title": "Sec16p potentiates the action of COPII proteins to bud transport vesicles.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Supek F, Madden DT, Hamamoto S, Orci L, Schekman R", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "12235121", "url": "https://glygen.org/publication/PubMed/12235121" } ] }, { "title": "Oligomeric state and stoichiometry of p24 proteins in the early secretory pathway.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jenne N, Frey K, Brugger B, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "12237308", "url": "https://glygen.org/publication/PubMed/12237308" } ] }, { "title": "Substrate specificity of the metalloproteinase pregnancy-associated plasma protein-A (PAPP-A) assessed by mutagenesis and analysis of synthetic peptides: substrate residues distant from the scissile bond are critical for proteolysis.", "journal": "The Biochemical journal", "date": "2002", "authors": "Laursen LS, Overgaard MT, Nielsen CG, Boldt HB, Hopmann KH, Conover CA, Sottrup-Jensen L, Giudice LC, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12241545", "url": "https://glygen.org/publication/PubMed/12241545" } ] }, { "title": "IGF-binding proteins are multifunctional and act via IGF-dependent and -independent mechanisms.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Mohan S, Baylink DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12379487", "url": "https://glygen.org/publication/PubMed/12379487" } ] }, { "title": "Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.", "journal": "Blood", "date": "2003", "authors": "Duga S, Montefusco MC, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "12393490", "url": "https://glygen.org/publication/PubMed/12393490" } ] }, { "title": "Cellular actions of the insulin-like growth factor binding proteins.", "journal": "Endocrine reviews", "date": "2002", "authors": "Firth SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12466191", "url": "https://glygen.org/publication/PubMed/12466191" } ] }, { "title": "The R2-haplotype associated Asp2194Gly mutation in the light chain of human factor V results in lower expression levels of FV, but has no influence on the glycosylation of Asn2181.", "journal": "Thrombosis and haemostasis", "date": "2003", "authors": "van der Neut Kolfschoten M, Dirven RJ, Vos HL, Bertina RM", "evidence": [ { "database": "Automatic Literature Mining", "id": "12624624", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/12624624" } ], "reference": [ { "type": "PubMed", "id": "12624624", "url": "https://glygen.org/publication/PubMed/12624624" } ] }, { "title": "Amino- and carboxyl-terminal fragments of insulin-like growth factor (IGF) binding protein-3 cooperate to bind IGFs with high affinity and inhibit IGF receptor interactions.", "journal": "Endocrinology", "date": "2003", "authors": "Payet LD, Wang XH, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12810533", "url": "https://glygen.org/publication/PubMed/12810533" } ] }, { "title": "IGF-binding protein-4: biochemical characteristics and functional consequences.", "journal": "The Journal of endocrinology", "date": "2003", "authors": "Zhou R, Diehl D, Hoeflich A, Lahm H, Wolf E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12904166", "url": "https://glygen.org/publication/PubMed/12904166" } ] }, { "title": "Heparin-induced substrate behavior of antithrombin Cambridge II.", "journal": "Blood", "date": "2003", "authors": "Mushunje A, Zhou A, Carrell RW, Huntington JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "12907439", "url": "https://glygen.org/publication/PubMed/12907439" } ] }, { "title": "Structural determinants for binary and ternary complex formation between insulin-like growth factor-I (IGF-I) and IGF binding protein-3.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Baxter RC, Bayne ML, Cascieri MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "1370451", "url": "https://glygen.org/publication/PubMed/1370451" } ] }, { "title": "Prostate-specific antigen (PSA) is an insulin-like growth factor binding protein-3 protease found in seminal plasma.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Cohen P, Graves HC, Peehl DM, Kamarei M, Giudice LC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "1383255", "url": "https://glygen.org/publication/PubMed/1383255" } ] }, { "title": "Isolation of dense granules from human platelets.", "journal": "Methods in enzymology", "date": "1992", "authors": "Fukami MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "1435334", "url": "https://glygen.org/publication/PubMed/1435334" } ] }, { "title": "Unique in vivo modifications of coagulation factor V produce a physically and functionally distinct platelet-derived cofactor: characterization of purified platelet-derived factor V/Va.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gould WR, Silveira JR, Tracy PB", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "14594814", "url": "https://glygen.org/publication/PubMed/14594814" } ] }, { "title": "Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.", "journal": "British journal of haematology", "date": "2003", "authors": "Mumford AD, McVey JH, Morse CV, Gomez K, Steen M, Norstrom EA, Tuddenham EG, Dahlback B, Bolton-Maggs PH", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "dbSNP", "id": "rs118203911", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203911" } ], "reference": [ { "type": "PubMed", "id": "14617013", "url": "https://glygen.org/publication/PubMed/14617013" } ] }, { "title": "Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions.", "journal": "Blood", "date": "2004", "authors": "Coppinger JA, Cagney G, Toomey S, Kislinger T, Belton O, McRedmond JP, Cahill DJ, Emili A, Fitzgerald DJ, Maguire PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "14630798", "url": "https://glygen.org/publication/PubMed/14630798" } ] }, { "title": "Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis.", "journal": "Blood", "date": "2004", "authors": "Steen M, Norstrom EA, Tholander AL, Bolton-Maggs PH, Mumford A, McVey JH, Tuddenham EG, Dahlback B", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "dbSNP", "id": "rs118203911", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203911" } ], "reference": [ { "type": "PubMed", "id": "14695241", "url": "https://glygen.org/publication/PubMed/14695241" } ] }, { "title": "The factor V activation paradox.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Orfeo T, Brufatto N, Nesheim ME, Xu H, Butenas S, Mann KG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "14982929", "url": "https://glygen.org/publication/PubMed/14982929" } ] }, { "title": "Multiple binding proteins suggest diverse functions for the N-ethylmaleimide sensitive factor.", "journal": "Journal of structural biology", "date": "2004", "authors": "Whiteheart SW, Matveeva EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "15037235", "url": "https://glygen.org/publication/PubMed/15037235" } ] }, { "title": "The role of the acid-labile subunit in regulating insulin-like growth factor transport across human umbilical vein endothelial cell monolayers.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Payet LD, Firth SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15126567", "url": "https://glygen.org/publication/PubMed/15126567" } ] }, { "title": "Characterization of a novel human protein C inhibitor (PCI) gene transgenic mouse useful for studying the role of PCI in physiological and pathological conditions.", "journal": "J. Thromb. Haemost.", "date": "2004", "authors": "Hayashi T, Nishioka J, Kamada H, Asanuma K, Kondo H, Gabazza E C, Ido M, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "15140131", "url": "https://glygen.org/publication/PubMed/15140131" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "C-terminal domain of insulin-like growth factor (IGF) binding protein-6: structure and interaction with IGF-II.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Headey SJ, Keizer DW, Yao S, Brasier G, Kantharidis P, Bach LA, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15308688", "url": "https://glygen.org/publication/PubMed/15308688" } ] }, { "title": "Characterization of insulin-like growth factor-free interaction between insulin-like growth factor binding protein 3 and acid labile subunit expressed from Xenopus oocytes.", "journal": "Journal of biochemistry and molecular biology", "date": "2004", "authors": "Choi KY, Kyung YJ, Lee CY, Lee DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15469690", "url": "https://glygen.org/publication/PubMed/15469690" } ] }, { "title": "Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yan X, Forbes BE, McNeil KA, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15485880", "url": "https://glygen.org/publication/PubMed/15485880" } ] }, { "title": "Contributions of the N- and C-terminal domains of IGF binding protein-6 to IGF binding.", "journal": "Journal of molecular endocrinology", "date": "2004", "authors": "Headey SJ, Leeding KS, Norton RS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15525596", "url": "https://glygen.org/publication/PubMed/15525596" } ] }, { "title": "Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls.", "journal": "Arch. Neurol.", "date": "2004", "authors": "Casas Juan P, Hingorani Aroon D, Bautista Leonelo E, Sharma Pankaj", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "15534175", "url": "https://glygen.org/publication/PubMed/15534175" } ] }, { "title": "Structural basis for the regulation of insulin-like growth factors by IGF binding proteins.", "journal": "Structure (London, England : 1993)", "date": "2005", "authors": "Siwanowicz I, Popowicz GM, Wisniewska M, Huber R, Kuenkele KP, Lang K, Engh RA, Holak TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15642270", "url": "https://glygen.org/publication/PubMed/15642270" } ] }, { "title": "Structure of the gene for human coagulation factor V.", "journal": "Biochemistry", "date": "1992", "authors": "Cripe LD, Moore KD, Kane WH", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "1567832", "url": "https://glygen.org/publication/PubMed/1567832" } ] }, { "title": "Sugar-binding properties of VIP36, an intracellular animal lectin operating as a cargo receptor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kamiya Y, Yamaguchi Y, Takahashi N, Arata Y, Kasai K, Ihara Y, Matsuo I, Ito Y, Yamamoto K, Kato K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "16129679", "url": "https://glygen.org/publication/PubMed/16129679" } ] }, { "title": "Discovery of the novel antithrombotic agent 5-chloro-N-({(5S)-2-oxo-3- [4-(3-oxomorpholin-4-yl)phenyl]-1,3-oxazolidin-5-yl}methyl)thiophene- 2-carboxamide (BAY 59-7939): an oral, direct factor Xa inhibitor.", "journal": "Journal of medicinal chemistry", "date": "2005", "authors": "Roehrig S, Straub A, Pohlmann J, Lampe T, Pernerstorfer J, Schlemmer KH, Reinemer P, Perzborn E", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "16161994", "url": "https://glygen.org/publication/PubMed/16161994" } ] }, { "title": "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.", "journal": "Molecular & cellular proteomics : MCP", "date": "2006", "authors": "Lewandrowski U, Moebius J, Walter U, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "16263699", "url": "https://glygen.org/publication/PubMed/16263699" } ] }, { "title": "Cysteine-disulfide cross-linking to monitor SNARE complex assembly during endoplasmic reticulum-Golgi transport.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Flanagan JJ, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16303754", "url": "https://glygen.org/publication/PubMed/16303754" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259#ptm_processing" }, { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "On and off membrane dynamics of the endoplasmic reticulum-golgi tethering factor p115 in vivo.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Brandon E, Szul T, Alvarez C, Grabski R, Benjamin R, Kawai R, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16624868", "url": "https://glygen.org/publication/PubMed/16624868" } ] }, { "title": "SNAREs--engines for membrane fusion.", "journal": "Nature reviews. Molecular cell biology", "date": "2006", "authors": "Jahn R, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "16912714", "url": "https://glygen.org/publication/PubMed/16912714" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Sec16 defines endoplasmic reticulum exit sites and is required for secretory cargo export in mammalian cells.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2006", "authors": "Watson P, Townley AK, Koka P, Palmer KJ, Stephens DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17005010", "url": "https://glygen.org/publication/PubMed/17005010" } ] }, { "title": "Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2006", "authors": "Nyfeler B, Zhang B, Ginsburg D, Kaufman RJ, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "17010120", "url": "https://glygen.org/publication/PubMed/17010120" } ] }, { "title": "SNARE status regulates tether recruitment and function in homotypic COPII vesicle fusion.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Bentley M, Liang Y, Mullen K, Xu D, Sztul E, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17038314", "url": "https://glygen.org/publication/PubMed/17038314" } ] }, { "title": "The role of insulin-like growth factor binding proteins.", "journal": "Neuroendocrinology", "date": "2006", "authors": "Holly J, Perks C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17047378", "url": "https://glygen.org/publication/PubMed/17047378" } ] }, { "title": "Two mammalian Sec16 homologues have nonredundant functions in endoplasmic reticulum (ER) export and transitional ER organization.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Bhattacharyya D, Glick BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17192411", "url": "https://glygen.org/publication/PubMed/17192411" } ] }, { "title": "Quantitative analysis of insulin-like growth factor-modulated proteolysis of insulin-like growth factor binding protein-4 and -5 by pregnancy-associated plasma protein-A.", "journal": "Biochemistry", "date": "2007", "authors": "Gyrup C, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17249697", "url": "https://glygen.org/publication/PubMed/17249697" } ] }, { "title": "TRAPPI tethers COPII vesicles by binding the coat subunit Sec23.", "journal": "Nature", "date": "2007", "authors": "Cai H, Yu S, Menon S, Cai Y, Lazarova D, Fu C, Reinisch K, Hay JC, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17287728", "url": "https://glygen.org/publication/PubMed/17287728" } ] }, { "title": "Regulation of insulin-like growth factor (IGF) bioactivity by sequential proteolytic cleavage of IGF binding protein-4 and -5.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Laursen LS, Kjaer-Sorensen K, Andersen MH, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17312271", "url": "https://glygen.org/publication/PubMed/17312271" } ] }, { "title": "Mechanisms of COPII vesicle formation and protein sorting.", "journal": "FEBS letters", "date": "2007", "authors": "Sato K, Nakano A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17316621", "url": "https://glygen.org/publication/PubMed/17316621" } ] }, { "title": "The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope.", "journal": "Molecular cell", "date": "2007", "authors": "Mancias JD, Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "17499046", "url": "https://glygen.org/publication/PubMed/17499046" } ] }, { "title": "Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Fuchs E, Haas AK, Spooner RA, Yoshimura S, Lord JM, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17562788", "url": "https://glygen.org/publication/PubMed/17562788" } ] }, { "title": "Cornichon regulates transport and secretion of TGFalpha-related proteins in metazoan cells.", "journal": "Journal of cell science", "date": "2007", "authors": "Castro CP, Piscopo D, Nakagawa T, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "17607000", "url": "https://glygen.org/publication/PubMed/17607000" } ] }, { "title": "Activated protein C.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2007", "authors": "Griffin JH, Fernandez JA, Gale AJ, Mosnier LO", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "17635713", "url": "https://glygen.org/publication/PubMed/17635713" } ] }, { "title": "Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells.", "journal": "Journal of cell science", "date": "2007", "authors": "Haas AK, Yoshimura S, Stephens DJ, Preisinger C, Fuchs E, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "17684057", "url": "https://glygen.org/publication/PubMed/17684057" } ] }, { "title": "Cooperativity of the N- and C-terminal domains of insulin-like growth factor (IGF) binding protein 2 in IGF binding.", "journal": "Biochemistry", "date": "2007", "authors": "Kuang Z, Yao S, McNeil KA, Thompson JA, Bach LA, Forbes BE, Wallace JC, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17985932", "url": "https://glygen.org/publication/PubMed/17985932" } ] }, { "title": "Molecular basis of sugar recognition by the human L-type lectins ERGIC-53, VIPL, and VIP36.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Kamiya Y, Kamiya D, Yamamoto K, Nyfeler B, Hauri HP, Kato K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "18025080", "url": "https://glygen.org/publication/PubMed/18025080" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] }, { "title": "Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Nyfeler B, Reiterer V, Wendeler MW, Stefan E, Zhang B, Michnick SW, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "18283111", "url": "https://glygen.org/publication/PubMed/18283111" } ] }, { "title": "The cargo receptors Surf4, endoplasmic reticulum-Golgi intermediate compartment (ERGIC)-53, and p25 are required to maintain the architecture of ERGIC and Golgi.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Mitrovic S, Ben-Tekaya H, Koegler E, Gruenberg J, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "18287528", "url": "https://glygen.org/publication/PubMed/18287528" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Structural basis of cargo membrane protein discrimination by the human COPII coat machinery.", "journal": "The EMBO journal", "date": "2008", "authors": "Mancias JD, Goldberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "18843296", "url": "https://glygen.org/publication/PubMed/18843296" } ] }, { "title": "Membrane fusion: grappling with SNARE and SM proteins.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Sudhof TC, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "19164740", "url": "https://glygen.org/publication/PubMed/19164740" } ] }, { "title": "Functional proteomics identify cornichon proteins as auxiliary subunits of AMPA receptors.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Schwenk J, Harmel N, Zolles G, Bildl W, Kulik A, Heimrich B, Chisaka O, Jonas P, Schulte U, Fakler B, Klocker N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "19265014", "url": "https://glygen.org/publication/PubMed/19265014" } ] }, { "title": "TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites.", "journal": "Cell", "date": "2009", "authors": "Saito K, Chen M, Bard F, Chen S, Zhou H, Woodley D, Polischuk R, Schekman R, Malhotra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "19269366", "url": "https://glygen.org/publication/PubMed/19269366" } ] }, { "title": "Discovery of betrixaban (PRT054021), N-(5-chloropyridin-2-yl)-2-(4-(N,N-dimethylcarbamimidoyl)benzamido)-5-methoxybenz amide, a highly potent, selective, and orally efficacious factor Xa inhibitor.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2009", "authors": "Zhang P, Huang W, Wang L, Bao L, Jia ZJ, Bauer SM, Goldman EA, Probst GD, Song Y, Su T, Fan J, Wu Y, Li W, Woolfrey J, Sinha U, Wong PW, Edwards ST, Arfsten AE, Clizbe LA, Kanter J, Pandey A, Park G, Hutchaleelaha A, Lambing JL, Hollenbach SJ, Scarborough RM, Zhu BY", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "19297154", "url": "https://glygen.org/publication/PubMed/19297154" } ] }, { "title": "The p24 family and selective transport processes at the ER-Golgi interface.", "journal": "Biology of the cell", "date": "2009", "authors": "Strating JR, Martens GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "19566487", "url": "https://glygen.org/publication/PubMed/19566487" } ] }, { "title": "Organisation of human ER-exit sites: requirements for the localisation of Sec16 to transitional ER.", "journal": "Journal of cell science", "date": "2009", "authors": "Hughes H, Budnik A, Schmidt K, Palmer KJ, Mantell J, Noakes C, Johnson A, Carter DA, Verkade P, Watson P, Stephens DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "19638414", "url": "https://glygen.org/publication/PubMed/19638414" } ] }, { "title": "mTrs130 is a component of a mammalian TRAPPII complex, a Rab1 GEF that binds to COPI-coated vesicles.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Yamasaki A, Menon S, Yu S, Barrowman J, Meerloo T, Oorschot V, Klumperman J, Satoh A, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "19656848", "url": "https://glygen.org/publication/PubMed/19656848" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "An initial characterization of the serum phosphoproteome.", "journal": "Journal of proteome research", "date": "2009", "authors": "Zhou W, Ross MM, Tessitore A, Ornstein D, Vanmeter A, Liotta LA, Petricoin EF 3rd", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "19824718", "url": "https://glygen.org/publication/PubMed/19824718" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Selective export of human GPI-anchored proteins from the endoplasmic reticulum.", "journal": "Journal of cell science", "date": "2010", "authors": "Bonnon C, Wendeler MW, Paccaud JP, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20427317", "url": "https://glygen.org/publication/PubMed/20427317" } ] }, { "title": "Role of the lectin VIP36 in post-ER quality control of human alpha1-antitrypsin.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Reiterer V, Nyfeler B, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20477988", "url": "https://glygen.org/publication/PubMed/20477988" } ] }, { "title": "Protein sorting receptors in the early secretory pathway.", "journal": "Annual review of biochemistry", "date": "2010", "authors": "Dancourt J, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20533886", "url": "https://glygen.org/publication/PubMed/20533886" } ] }, { "title": "A targeted siRNA screen to identify SNAREs required for constitutive secretion in mammalian cells.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2010", "authors": "Gordon DE, Bond LM, Sahlender DA, Peden AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "20545907", "url": "https://glygen.org/publication/PubMed/20545907" } ] }, { "title": "p125A exists as part of the mammalian Sec13/Sec31 COPII subcomplex to facilitate ER-Golgi transport.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Ong YS, Tang BL, Loo LS, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "20679433", "url": "https://glygen.org/publication/PubMed/20679433" } ] }, { "title": "Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Shi Y, Suh YH, Milstein AD, Isozaki K, Schmid SM, Roche KW, Nicoll RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "20805473", "url": "https://glygen.org/publication/PubMed/20805473" } ] }, { "title": "TRAPP complexes in membrane traffic: convergence through a common Rab.", "journal": "Nature reviews. Molecular cell biology", "date": "2010", "authors": "Barrowman J, Bhandari D, Reinisch K, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "20966969", "url": "https://glygen.org/publication/PubMed/20966969" } ] }, { "title": "TFG-1 function in protein secretion and oncogenesis.", "journal": "Nature cell biology", "date": "2011", "authors": "Witte K, Schuh AL, Hegermann J, Sarkeshik A, Mayers JR, Schwarze K, Yates JR 3rd, Eimer S, Audhya A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "21478858", "url": "https://glygen.org/publication/PubMed/21478858" } ] }, { "title": "cTAGE5 mediates collagen secretion through interaction with TANGO1 at endoplasmic reticulum exit sites.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Saito K, Yamashiro K, Ichikawa Y, Erlmann P, Kontani K, Malhotra V, Katada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "21525241", "url": "https://glygen.org/publication/PubMed/21525241" } ] }, { "title": "Sequential interactions with Sec23 control the direction of vesicle traffic.", "journal": "Nature", "date": "2011", "authors": "Lord C, Bhandari D, Menon S, Ghassemian M, Nycz D, Hay J, Ghosh P, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "21532587", "url": "https://glygen.org/publication/PubMed/21532587" } ] }, { "title": "Sulfation of tyrosine residues in coagulation factor V.", "journal": "Blood", "date": "1990", "authors": "Hortin GL", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "2168225", "url": "https://glygen.org/publication/PubMed/2168225" } ] }, { "title": "Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF).", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Zhao C, Smith EC, Whiteheart SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "21689688", "url": "https://glygen.org/publication/PubMed/21689688" } ] }, { "title": "Protein export at the ER: loading big collagens into COPII carriers.", "journal": "The EMBO journal", "date": "2011", "authors": "Malhotra V, Erlmann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "21878990", "url": "https://glygen.org/publication/PubMed/21878990" } ] }, { "title": "COPII and COPI traffic at the ER-Golgi interface.", "journal": "Physiology (Bethesda, Md.)", "date": "2011", "authors": "Szul T, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "22013193", "url": "https://glygen.org/publication/PubMed/22013193" } ] }, { "title": "Sec24p and Sec16p cooperate to regulate the GTP cycle of the COPII coat.", "journal": "The EMBO journal", "date": "2012", "authors": "Kung LF, Pagant S, Futai E, D'Arcangelo JG, Buchanan R, Dittmar JC, Reid RJ, Rothstein R, Hamamoto S, Snapp EL, Schekman R, Miller EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "22157747", "url": "https://glygen.org/publication/PubMed/22157747" } ] }, { "title": "Crystal structures of protease nexin-1 in complex with heparin and thrombin suggest a 2-step recognition mechanism.", "journal": "Blood", "date": "2012", "authors": "Li W, Huntington JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "22618708", "url": "https://glygen.org/publication/PubMed/22618708" } ] }, { "title": "Insights into structural and regulatory roles of Sec16 in COPII vesicle formation at ER exit sites.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Yorimitsu T, Sato K", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "22675024", "url": "https://glygen.org/publication/PubMed/22675024" } ] }, { "title": "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.", "journal": "Nature genetics", "date": "2012", "authors": "Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R", "evidence": [ { "database": "dbSNP", "id": "rs1275617894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275617894" } ], "reference": [ { "type": "PubMed", "id": "22842228", "url": "https://glygen.org/publication/PubMed/22842228" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "The highly conserved COPII coat complex sorts cargo from the endoplasmic reticulum and targets it to the golgi.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2013", "authors": "Lord C, Ferro-Novick S, Miller EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23378591", "url": "https://glygen.org/publication/PubMed/23378591" } ] }, { "title": "Multiple myeloma is affected by multiple and heterogeneous somatic mutations in adhesion- and receptor tyrosine kinase signaling molecules.", "journal": "Blood cancer journal", "date": "2013", "authors": "Leich E, Weissbach S, Klein HU, Grieb T, Pischimarov J, Stuhmer T, Chatterjee M, Steinbrunn T, Langer C, Eilers M, Knop S, Einsele H, Bargou R, Rosenwald A", "evidence": [ { "database": "dbSNP", "id": "rs139573207", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139573207" } ], "reference": [ { "type": "PubMed", "id": "23396385", "url": "https://glygen.org/publication/PubMed/23396385" } ] }, { "title": "Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nurnberg G, Altmuller J, Saxena R, Chapman ER, Dent EW, Nurnberg P, Audhya A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23479643", "url": "https://glygen.org/publication/PubMed/23479643" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Efficacy and toxicity of factor Xa inhibitors.", "journal": "Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques", "date": "2013", "authors": "Bondarenko M, Curti C, Montana M, Rathelot P, Vanelle P", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "23683607", "url": "https://glygen.org/publication/PubMed/23683607" } ] }, { "title": "Organization of the ER-Golgi interface for membrane traffic control.", "journal": "Nature reviews. Molecular cell biology", "date": "2013", "authors": "Brandizzi F, Barlowe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23698585", "url": "https://glygen.org/publication/PubMed/23698585" } ] }, { "title": "Combined deficiency of coagulation factors V and VIII: an update.", "journal": "Seminars in thrombosis and hemostasis", "date": "2013", "authors": "Zheng C, Zhang B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "23852824", "url": "https://glygen.org/publication/PubMed/23852824" } ] }, { "title": "Sit4p/PP6 regulates ER-to-Golgi traffic by controlling the dephosphorylation of COPII coat subunits.", "journal": "Molecular biology of the cell", "date": "2013", "authors": "Bhandari D, Zhang J, Menon S, Lord C, Chen S, Helm JR, Thorsen K, Corbett KD, Hay JC, Ferro-Novick S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "23864707", "url": "https://glygen.org/publication/PubMed/23864707" } ] }, { "title": "Tethering the assembly of SNARE complexes.", "journal": "Trends in cell biology", "date": "2014", "authors": "Hong W, Lev S", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "24119662", "url": "https://glygen.org/publication/PubMed/24119662" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "The new factor Xa inhibitor: Apixaban.", "journal": "Journal of pharmacology & pharmacotherapeutics", "date": "2014", "authors": "Bhanwra S, Ahluwalia K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "24554904", "url": "https://glygen.org/publication/PubMed/24554904" } ] }, { "title": "Structure of the Mr 140,000 growth hormone-dependent insulin-like growth factor binding protein complex: determination by reconstitution and affinity-labeling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Baxter RC, Martin JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2476804", "url": "https://glygen.org/publication/PubMed/2476804" } ] }, { "title": "Cloning, sequence analysis and expression of a cDNA encoding a novel insulin-like growth factor binding protein (IGFBP-2).", "journal": "The EMBO journal", "date": "1989", "authors": "Binkert C, Landwehr J, Mary JL, Schwander J, Heinrich G", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2479552", "url": "https://glygen.org/publication/PubMed/2479552" } ] }, { "title": "In sickness and in health: the role of TRAPP and associated proteins in disease.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2014", "authors": "Brunet S, Sacher M", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "24917561", "url": "https://glygen.org/publication/PubMed/24917561" } ] }, { "title": "Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Saito K, Yamashiro K, Shimazu N, Tanabe T, Kontani K, Katada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25202031", "url": "https://glygen.org/publication/PubMed/25202031" } ] }, { "title": "The roles of protein C and thrombomodulin in the regulation of blood coagulation.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "2538457", "url": "https://glygen.org/publication/PubMed/2538457" } ] }, { "title": "p115-SNARE interactions: a dynamic cycle of p115 binding monomeric SNARE motifs and releasing assembled bundles.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2015", "authors": "Wang T, Grabski R, Sztul E, Hay JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25406594", "url": "https://glygen.org/publication/PubMed/25406594" } ] }, { "title": "Three alphaSNAP and 10 ATP molecules are used in SNARE complex disassembly by N-ethylmaleimide-sensitive factor (NSF).", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Shah N, Colbert KN, Enos MD, Herschlag D, Weis WI", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25492864", "url": "https://glygen.org/publication/PubMed/25492864" } ] }, { "title": "TFG clusters COPII-coated transport carriers and promotes early secretory pathway organization.", "journal": "The EMBO journal", "date": "2015", "authors": "Johnson A, Bhattacharya N, Hanna M, Pennington JG, Schuh AL, Wang L, Otegui MS, Stagg SM, Audhya A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25586378", "url": "https://glygen.org/publication/PubMed/25586378" } ] }, { "title": "SEC16 in COPII coat dynamics at ER exit sites.", "journal": "Biochemical Society transactions", "date": "2015", "authors": "Sprangers J, Rabouille C", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "25619252", "url": "https://glygen.org/publication/PubMed/25619252" } ] }, { "title": "Procollagen export from the endoplasmic reticulum.", "journal": "Biochemical Society transactions", "date": "2015", "authors": "Malhotra V, Erlmann P, Nogueira C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "25619253", "url": "https://glygen.org/publication/PubMed/25619253" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Edoxaban, a Novel Oral Factor Xa Inhibitor.", "journal": "The Annals of pharmacotherapy", "date": "2015", "authors": "Minor C, Tellor KB, Armbruster AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "25855704", "url": "https://glygen.org/publication/PubMed/25855704" } ] }, { "title": "A Single Kinase Generates the Majority of the Secreted Phosphoproteome.", "journal": "Cell", "date": "2015", "authors": "Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, Xiao J, Cui J, Nguyen KB, Engel JL, Coon JJ, Grishin N, Pinna LA, Pagliarini DJ, Dixon JE", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" }, { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] }, { "title": "High-resolution NMR studies of fibrinogen-like peptides in solution: interaction of thrombin with residues 1-23 of the A alpha chain of human fibrinogen.", "journal": "Biochemistry", "date": "1989", "authors": "Ni F, Konishi Y, Frazier RB, Scheraga HA, Lord ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "2742826", "url": "https://glygen.org/publication/PubMed/2742826" } ] }, { "title": "Proteomics Analysis of O-GalNAc Glycosylation in Human Serum by an Integrated Strategy.", "journal": "Analytical chemistry", "date": "2017", "authors": "Qin H, Cheng K, Zhu J, Mao J, Wang F, Dong M, Chen R, Guo Z, Liang X, Ye M, Zou H", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "PubMed", "id": "28035807", "url": "https://glygen.org/publication/PubMed/28035807" } ] }, { "title": "Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats.", "journal": "Biochemistry", "date": "1987", "authors": "Kane W H, Ichinose A, Hagen F S, Davie E W", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "2827731", "url": "https://glygen.org/publication/PubMed/2827731" } ] }, { "title": "Inactivation of human plasma kallikrein and factor XIa by protein C inhibitor.", "journal": "Biochemistry", "date": "1988", "authors": "Meijers JC, Kanters DH, Vlooswijk RA, van Erp HE, Hessing M, Bouma BN", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "2844223", "url": "https://glygen.org/publication/PubMed/2844223" } ] }, { "title": "Regulation of formation of factor XIIIa by its fibrin substrates.", "journal": "Biochemistry", "date": "1985", "authors": "Lewis SD, Janus TJ, Lorand L, Shafer JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "2866798", "url": "https://glygen.org/publication/PubMed/2866798" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12259", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12259" }, { "database": "O-GlcNAc Atlas", "id": "P12259", "url": "https://oglcnac.org/atlas/detail/P12259" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Large-scale intact glycopeptide identification by Mascot database search.", "journal": "Scientific reports", "date": "2018", "authors": "Bollineni RC, Koehler CJ, Gislefoss RE, Anonsen JH, Thiede B", "evidence": [ { "database": "GlyConnect", "id": "1120", "url": "https://glyconnect.expasy.org/browser/proteins/1120" } ], "reference": [ { "type": "PubMed", "id": "29391424", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" }, { "database": "GlyConnect", "id": "1120", "url": "https://glyconnect.expasy.org/browser/proteins/1120" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1120", "url": "https://glyconnect.expasy.org/browser/proteins/1120" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P12259", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Cofactor proteins in the assembly and expression of blood clotting enzyme complexes.", "journal": "Annual review of biochemistry", "date": "1988", "authors": "Mann KG, Jenny RJ, Krishnaswamy S", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3052293", "url": "https://glygen.org/publication/PubMed/3052293" } ] }, { "title": "Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Kane W H, Davie E W", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "3092220", "url": "https://glygen.org/publication/PubMed/3092220" } ] }, { "title": "Complete cDNA and derived amino acid sequence of human factor V.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "3110773", "url": "https://glygen.org/publication/PubMed/3110773" } ] }, { "title": "Comprehensive N- and O-glycosylation mapping of human coagulation factor V.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2020-08", "authors": "Ma Cheng, Liu Ding, Li Dong, Zhang Junping, Xu Xiao-Qian, Zhu He, Wan Xiu-Feng, Miao Carol H, Konkle Barbara A, Onigman Philip, Xiao Weidong, Li Lei", "evidence": [ { "database": "GlyConnect", "id": "1120", "url": "https://glyconnect.expasy.org/browser/proteins/1120" } ], "reference": [ { "type": "PubMed", "id": "32310329", "url": "https://glygen.org/publication/PubMed/32310329" } ] }, { "title": "IL16 and factor V gene variations are associated with asparaginase-related thrombosis in childhood acute lymphoblastic leukemia patients.", "journal": "Pharmacogenomics", "date": "2023-03", "authors": "Mootoosamy Covida, Kondyli Maria, Serfaty Sophie Annaelle, Tremblay David-\u00c9tienne, Gagn\u00e9 Vincent, Rib\u00e8re Ma\u00eft\u00e9, Laverdi\u00e8re Caroline, Leclerc Jean-Marie, Sinnett Daniel, Tran Thai Hoa, Krajinovic Maja", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" } ], "reference": [ { "type": "PubMed", "id": "36946317", "url": "https://glygen.org/publication/PubMed/36946317" } ] }, { "title": "Complications of Factor V Leiden in Adults Undergoing Noncardiac Surgical Procedures: A Systematic Review.", "journal": "Anesthesia and analgesia", "date": "2023-09-01", "authors": "Au Emily, Shao Ian, Elias Zeyad, Koivu Annabel, Zabida Amir, Shih Andrew W, Cserti-Gazdewich Christine, van Klei Wilton A, Bartoszko Justyna", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" } ], "reference": [ { "type": "PubMed", "id": "37053508", "url": "https://glygen.org/publication/PubMed/37053508" } ] }, { "title": "[The analysis of a pedigree with hereditary coagulation factor \u2164 deficiency caused by compound heterozygous variation of F5 gene].", "journal": "Zhonghua yi xue za zhi", "date": "2023-05-09", "authors": "Cheng X L, Yang T, Yang L, Xin Y J, He M, Zhu L, Liu J Y", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" } ], "reference": [ { "type": "PubMed", "id": "37150682", "url": "https://glygen.org/publication/PubMed/37150682" } ] }, { "title": "Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.", "journal": "Hamostaseologie", "date": "2023-06-15", "authors": "Chen Yuan, Zhang Ke, Jin Yanhui, Zeng Manlin, Jia Kaiqi, Yang Lihong, Wang Mingshan", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" } ], "reference": [ { "type": "PubMed", "id": "37321256", "url": "https://glygen.org/publication/PubMed/37321256" } ] }, { "title": "Heparin and its low molecular weight derivatives: anticoagulant and antithrombotic properties.", "journal": "Haemostasis", "date": "1986", "authors": "Holmer E, Soderberg K, Bergqvist D, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3744129", "url": "https://glygen.org/publication/PubMed/3744129" } ] }, { "title": "Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).", "journal": "Blood cells, molecules & diseases", "date": "2023-08-24", "authors": "Zhang Ke, Ye Longying, Jin Yanhui, Chen Yuan, Jiang Shuting, Xie Haixiao, Yang Lihong, Wang Mingshan", "evidence": [ { "database": "RefSeq", "id": "NP_000121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000121" } ], "reference": [ { "type": "PubMed", "id": "37639740", "url": "https://glygen.org/publication/PubMed/37639740" } ] }, { "title": "Inhibition of chymotrypsin by heparin cofactor II.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Church FC, Noyes CM, Griffith MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3863104", "url": "https://glygen.org/publication/PubMed/3863104" } ] }, { "title": "Mechanism of inhibition of activated protein C by protein C inhibitor.", "journal": "J. Biochem.", "date": "1984", "authors": "Suzuki K, Nishioka J, Kusumoto H, Hashimoto S", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "6323392", "url": "https://glygen.org/publication/PubMed/6323392" } ] }, { "title": "Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Gogstad GO, Hagen I, Korsmo R, Solum NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "6457647", "url": "https://glygen.org/publication/PubMed/6457647" } ] }, { "title": "Coagulation Factor V contains copper ion.", "journal": "J. Biol. Chem.", "date": "1984", "authors": "Mann K G, Lawler C M, Vehar G A, Church W R", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "6490642", "url": "https://glygen.org/publication/PubMed/6490642" } ] }, { "title": "Studies on synthetic peptides that bind to fibrinogen and prevent fibrin polymerization. Structural requirements, number of binding sites, and species differences.", "journal": "Biochemistry", "date": "1980", "authors": "Laudano AP, Doolittle RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "7356959", "url": "https://glygen.org/publication/PubMed/7356959" } ] }, { "title": "Effects of protein S and factor Xa on peptide bond cleavages during inactivation of factor Va and factor VaR506Q by activated protein C.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Rosing J, Hoekema L, Nicolaes GA, Thomassen MC, Hemker HC, Varadi K, Schwarz HP, Tans G", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "7499257", "url": "https://glygen.org/publication/PubMed/7499257" } ] }, { "title": "Heparin, heparan sulfate, and dermatan sulfate regulate formation of the insulin-like growth factor-I and insulin-like growth factor-binding protein complexes.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Arai T, Parker A, Busby W Jr, Clemmons DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7519608", "url": "https://glygen.org/publication/PubMed/7519608" } ] }, { "title": "Matrix metalloproteinases degrade insulin-like growth factor-binding protein-3 in dermal fibroblast cultures.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Fowlkes JL, Enghild JJ, Suzuki K, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7523391", "url": "https://glygen.org/publication/PubMed/7523391" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF)-binding protein-6 inhibits IGF-II-induced differentiation of L6A1 myoblasts.", "journal": "Endocrinology", "date": "1994", "authors": "Bach LA, Hsieh S, Brown AL, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525263", "url": "https://glygen.org/publication/PubMed/7525263" } ] }, { "title": "Identification of insulin-like growth factor-binding protein-3 (IGFBP-3) fragments and IGFBP-5 proteolytic activity in human seminal plasma: a comparison of normal and vasectomized patients.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1994", "authors": "Lee KO, Oh Y, Giudice LC, Cohen P, Peehl DM, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525634", "url": "https://glygen.org/publication/PubMed/7525634" } ] }, { "title": "Biological effects of prostate specific antigen as an insulin-like growth factor binding protein-3 protease.", "journal": "The Journal of endocrinology", "date": "1994", "authors": "Cohen P, Peehl DM, Graves HC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525824", "url": "https://glygen.org/publication/PubMed/7525824" } ] }, { "title": "Interactions between insulin-like growth factor-I (IGF-I) and the system of plasminogen activators and their inhibitors in the control of IGF-binding protein-3 production and proteolysis in human osteosarcoma cells.", "journal": "Endocrinology", "date": "1994", "authors": "Lalou C, Silve C, Rosato R, Segovia B, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7527330", "url": "https://glygen.org/publication/PubMed/7527330" } ] }, { "title": "Biochemical analysis of prostate specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7538844", "url": "https://glygen.org/publication/PubMed/7538844" } ] }, { "title": "Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1995", "authors": "Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, Muller J, Skakkebaek NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7543116", "url": "https://glygen.org/publication/PubMed/7543116" } ] }, { "title": "Autocrine regulation of cell proliferation by the insulin-like growth factor (IGF) and IGF binding protein-3 protease system in a human prostate carcinoma cell line (PC-3).", "journal": "Endocrinology", "date": "1995", "authors": "Angelloz-Nicoud P, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7588299", "url": "https://glygen.org/publication/PubMed/7588299" } ] }, { "title": "Binding of mutants of human insulin-like growth factor II to insulin-like growth factor binding proteins 1-6.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Bach LA, Hsieh S, Sakano K, Fujiwara H, Perdue JF, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7683646", "url": "https://glygen.org/publication/PubMed/7683646" } ] }, { "title": "Glucose does not influence the insulin-like growth factor (JGF) binding to carrier proteins (IGFBPs): analysis of rat and human serum by western ligand blotting.", "journal": "Experientia", "date": "1993", "authors": "Cianfarani S, Frost VJ, Savage MO, Holly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7689487", "url": "https://glygen.org/publication/PubMed/7689487" } ] }, { "title": "A polymorphism in the human coagulation factor V gene.", "journal": "Hum. Mol. Genet.", "date": "1994", "authors": "Bayston T A, Ireland H, Olds R J, Thein S L, Lane D A", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "7874144", "url": "https://glygen.org/publication/PubMed/7874144" } ] }, { "title": "The mechanism of inactivation of human factor V and human factor Va by activated protein C.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Kalafatis M, Rand MD, Mann KG", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "7989361", "url": "https://glygen.org/publication/PubMed/7989361" } ] }, { "title": "Factor IXa protects factor VIIIa from activated protein C. Factor IXa inhibits activated protein C-catalyzed cleavage of factor VIIIa at Arg562.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Regan LM, Lamphear BJ, Huggins CF, Walker FJ, Fay PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "8144529", "url": "https://glygen.org/publication/PubMed/8144529" } ] }, { "title": "Mutation in blood coagulation factor V associated with resistance to activated protein C.", "journal": "Nature", "date": "1994", "authors": "Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "8164741", "url": "https://glygen.org/publication/PubMed/8164741" } ] }, { "title": "Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity.", "journal": "Biochemistry", "date": "1994", "authors": "Pittman DD, Tomkinson KN, Michnick D, Selighsohn U, Kaufman RJ", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "8204629", "url": "https://glygen.org/publication/PubMed/8204629" } ] }, { "title": "A protein assembly-disassembly pathway in vitro that may correspond to sequential steps of synaptic vesicle docking, activation, and fusion.", "journal": "Cell", "date": "1993", "authors": "Sollner T, Bennett MK, Whiteheart SW, Scheller RH, Rothman JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8221884", "url": "https://glygen.org/publication/PubMed/8221884" } ] }, { "title": "The serine protease cofactor factor V is synthesized by lymphocytes.", "journal": "J. Immunol.", "date": "1993", "authors": "Shen N L, Fan S T, Pyati J, Graff R, LaPolla R J, Edgington T S", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "8454869", "url": "https://glygen.org/publication/PubMed/8454869" } ] }, { "title": "Platelet alpha-granules.", "journal": "Blood reviews", "date": "1993", "authors": "Harrison P, Cramer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "8467233", "url": "https://glygen.org/publication/PubMed/8467233" } ] }, { "title": "Sec18p (NSF)-driven release of Sec17p (alpha-SNAP) can precede docking and fusion of yeast vacuoles.", "journal": "Cell", "date": "1996", "authors": "Mayer A, Wickner W, Haas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8620540", "url": "https://glygen.org/publication/PubMed/8620540" } ] }, { "title": "Mammalian Sly1 regulates syntaxin 5 function in endoplasmic reticulum to Golgi transport.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Dascher C, Balch WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "8663406", "url": "https://glygen.org/publication/PubMed/8663406" } ] }, { "title": "Characterization of semenogelin II and its molecular interaction with prostate-specific antigen and protein C inhibitor.", "journal": "Eur. J. Biochem.", "date": "1996", "authors": "Kise H, Nishioka J, Kawamura J, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "8665956", "url": "https://glygen.org/publication/PubMed/8665956" } ] }, { "title": "Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma.", "journal": "Thromb. Haemost.", "date": "1996", "authors": "Lunghi B, Iacoviello L, Gemmati D, Dilasio M G, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti G, Bernardi F", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "8713778", "url": "https://glygen.org/publication/PubMed/8713778" } ] }, { "title": "Measurement of insulin-like growth factor (IGF)-II binding to purified IGF binding proteins 1-6: comparison of charcoal adsorption and high performance size exclusion chromatography.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bach LA, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8781553", "url": "https://glygen.org/publication/PubMed/8781553" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP) proteases: functional regulators of cell growth.", "journal": "Progress in growth factor research", "date": "1995", "authors": "Rajah R, Katz L, Nunn S, Solberg P, Beers T, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8817670", "url": "https://glygen.org/publication/PubMed/8817670" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF) binding protein-3 stimulates prostate carcinoma cell proliferation via an IGF-dependent mechanism. Role of serine proteases.", "journal": "Growth regulation", "date": "1996", "authors": "Angelloz-Nicoud P, Harel L, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8894645", "url": "https://glygen.org/publication/PubMed/8894645" } ] }, { "title": "Isolation and characterization of proteolytic fragments of insulin-like growth factor-binding protein-3.", "journal": "Hormone research", "date": "1996", "authors": "Lalou C, Lassarre C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8964575", "url": "https://glygen.org/publication/PubMed/8964575" } ] }, { "title": "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells.", "journal": "Cell", "date": "1997", "authors": "Hay JC, Chao DS, Kuo CS, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9094723", "url": "https://glygen.org/publication/PubMed/9094723" } ] }, { "title": "The vesicle docking protein p115 binds GM130, a cis-Golgi matrix protein, in a mitotically regulated manner.", "journal": "Cell", "date": "1997", "authors": "Nakamura N, Lowe M, Levine TP, Rabouille C, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9150144", "url": "https://glygen.org/publication/PubMed/9150144" } ] }, { "title": "Assembly and disassembly of a ternary complex of synaptobrevin, syntaxin, and SNAP-25 in the membrane of synaptic vesicles.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Otto H, Hanson PI, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9177194", "url": "https://glygen.org/publication/PubMed/9177194" } ] }, { "title": "Identification of functional endothelial protein C receptor in human plasma.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Kurosawa S, Stearns-Kurosawa DJ, Hidari N, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "9218519", "url": "https://glygen.org/publication/PubMed/9218519" } ] }, { "title": "Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis.", "journal": "Gut", "date": "1997", "authors": "Mahmoud A E, Elias E, Beauchamp N, Wilde J T", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "9245936", "url": "https://glygen.org/publication/PubMed/9245936" } ] }, { "title": "An isoform of the Golgi t-SNARE, syntaxin 5, with an endoplasmic reticulum retrieval signal.", "journal": "Molecular biology of the cell", "date": "1997", "authors": "Hui N, Nakamura N, Sonnichsen B, Shima DT, Nilsson T, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9307973", "url": "https://glygen.org/publication/PubMed/9307973" } ] }, { "title": "The recycling of ERGIC-53 in the early secretory pathway. ERGIC-53 carries a cytosolic endoplasmic reticulum-exit determinant interacting with COPII.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Kappeler F, Klopfenstein DR, Foguet M, Paccaud JP, Hauri HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "9395526", "url": "https://glygen.org/publication/PubMed/9395526" } ] }, { "title": "A novel mutation of Arg306 of factor V gene in Hong Kong Chinese.", "journal": "Blood", "date": "1998", "authors": "Chan WP, Lee CK, Kwong YL, Lam CK, Liang R", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "9454741", "url": "https://glygen.org/publication/PubMed/9454741" } ] }, { "title": "Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C.", "journal": "Blood", "date": "1998", "authors": "Williamson D, Brown K, Luddington R, Baglin C, Baglin T", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "9454742", "url": "https://glygen.org/publication/PubMed/9454742" } ] }, { "title": "gp25L/emp24/p24 protein family members of the cis-Golgi network bind both COP I and II coatomer.", "journal": "The Journal of cell biology", "date": "1998", "authors": "Dominguez M, Dejgaard K, Fullekrug J, Dahan S, Fazel A, Paccaud JP, Thomas DY, Bergeron JJ, Nilsson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5694530", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530" } ], "reference": [ { "type": "PubMed", "id": "9472029", "url": "https://glygen.org/publication/PubMed/9472029" } ] }, { "title": "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9497324", "url": "https://glygen.org/publication/PubMed/9497324" } ] }, { "title": "Identification and partial characterization of factor Va heavy chain kinase from human platelets.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kalafatis M", "evidence": [ { "database": "iPTMnet", "id": "P12259", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12259" } ], "reference": [ { "type": "PubMed", "id": "9525959", "url": "https://glygen.org/publication/PubMed/9525959" } ] }, { "title": "Protein C inhibitor secreted from activated platelets efficiently inhibits activated protein C on phosphatidylethanolamine of platelet membrane and microvesicles.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Nishioka J, Ning M, Hayashi T, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "9556620", "url": "https://glygen.org/publication/PubMed/9556620" } ] }, { "title": "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs.", "journal": "The Journal of cell biology", "date": "1998", "authors": "Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-204005", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005" } ], "reference": [ { "type": "PubMed", "id": "9647643", "url": "https://glygen.org/publication/PubMed/9647643" } ] }, { "title": "Identification of novel high molecular weight insulin-like growth factor-binding protein-3 association proteins in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1998", "authors": "Collett-Solberg PF, Nunn SE, Gibson TB, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9709957", "url": "https://glygen.org/publication/PubMed/9709957" } ] }, { "title": "The insulin-like growth factor (IGF)binding protein 1 binding epitope on IGF-I probed by heteronuclear NMR spectroscopy and mutational analysis.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Jansson M, Andersson G, Uhlen M, Nilsson B, Kordel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9733769", "url": "https://glygen.org/publication/PubMed/9733769" } ] }, { "title": "Clinical significance of Arg306 mutations of factor V gene.", "journal": "Blood", "date": "1998", "authors": "Liang R, Lee CK, Wat MS, Kwong YL, Lam CK, Liu HW", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "reference": [ { "type": "PubMed", "id": "9746807", "url": "https://glygen.org/publication/PubMed/9746807" } ] }, { "title": "Insulin-like growth factor-binding protein 5 complexes with the acid-labile subunit. Role of the carboxyl-terminal domain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9786878", "url": "https://glygen.org/publication/PubMed/9786878" } ] }, { "title": "Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle.", "journal": "American journal of respiratory cell and molecular biology", "date": "1999", "authors": "Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "9922210", "url": "https://glygen.org/publication/PubMed/9922210" } ] } ], "pathway": [ { "id": "hsa:2153", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2153", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-HSA-140875", "name": "Common Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "resource": "Reactome", "description": "Common Pathway of Fibrin Clot Formation" }, { "id": "R-HSA-204005", "name": "COPII-mediated vesicle transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-204005", "resource": "Reactome", "description": "COPII-mediated vesicle transport" }, { "id": "R-HSA-381426", "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426", "resource": "Reactome", "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" }, { "id": "R-HSA-5694530", "name": "Cargo concentration in the ER", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5694530", "resource": "Reactome", "description": "Cargo concentration in the ER" }, { "id": "R-HSA-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K3W2-1", "protein_name": "Coagulation factor V", "gene_name": "F5", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPLATGGRDLTKPLPTLGIEGKGGRVIQPPLGTGTLTAPNSFLVLQGVRTARSRDRALSTVSRGSARGRTRAMFLVCPRFFLLVVLGTRWAGWGSHQAEAAQLRQFYVAAQGILWNYHPESADPSLNSIPSFKKIVYREYEPYFKKEKPRSSNSGLLGPTLYAEVGDTIKVHFRNKADKPLSIHPQGIRYSKFSEGASYLDHTSPAERKDDAVAAGEEYTYEWFIGEDSGPTPDDPPCLTHIYYSYENLTQDFNSGLIGPLLICKEGTLTEDGTQKMFDKQHVLLFAVFDESKSWSQSPALMYTVNGFVNRTMPDVTVCAYDHVSWHLIGMSSGPELFSIHFNGQVLEQNQHKVSTVTLVSATSTTANMTMSPEGKWIVSSLIPKHYQAGMQAYIDIKNCPKKTRSSKTLTREQRRHMKRWEYFIAAEEVIWNYAPVIPANMDKLYKSLHLDNFSNQIGKHYKKVIYREYKDETFTKRIENQSSRQSGILGPIIKAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDGVNSSSTSGSHTMIKPVQPGETFTYKWNILEFDEPTENDAQCLTRPYYSDVDVTRDIASGLIGLLLICKSRSLDQRGIQRVADMEQEVVFAMFDENKSWYIEDNINKFCENPDEVKRDDPKFYESNIMNTINGYVPESISTLGFCFDDAVQWHFCSVGTHDDILTVHFTGHSFIYGRRHEDTLTLFPMSGESVTVVMDNIGTWMLTTMSSNPRRRNLRLRFRDVKCNRNDDDDEDSYEIYQPLEPTSMTTRKIHDSVENDFGIENEDDDYQYELASTLGIRSFRKSLLNPKEDEFNLTALALENSSEFISLSTDGVVDSKSSRNLSKITNNNLNDSQRTLSGSGATIAGILLGNLTGLGKNSVLNPSTEYHSSSYYENDMEDPQSNITVVYLLPLGAKGSGSREQTKPKTIKTGRPHRMKHRFSWMKAPAGKTGRHSNPKNTSSRMKSEEDIPSDLLLLKQKVASKLLNRQWHMASEKGSYEIIPANGENTDIDKLTNSPQNQNISTPWGASTSRINTTGKPSNLPTFSRFRHKSPHVRQEEESGDFKKRQLFIRTRKKKKNRKFALHSPLSPRGFYHPRREDHPPLLDRRLLNHSLLLHKSNETALSTDLNQTSPPVSTDRSLPDYNQNPSNDTEQMSSSLDLFQSVPPEEHSPTFPTQDPNQTHSTTDPSYRSSPPEPSQGIDYDLSHEFYSDDISQTSFFPDQSQKSPLTSDDGQAIPSSDLNLFTISPELDQTIIYPDLDQLFLSPDDIQKTSSQDLGQVTLSPDENQETSSQDLGQVTLSPNENQETSSQDLGQVTLSPDDIQETSSQDLGQVTLSPDENQETSSPDLGQVPLTPDDNQKTSPDLGQVLLSLDDKQKTYFLDPGQVPISSDQSWETSSTDLSLLTLSPKFGQTVISPDLDKMPLSSDNSQVTLSPDLSLLTLSPDFNEIILSPDIDQVTLSPDLIQTSPALNHRHKTSSADPGQASYPPDSGQSSPLPELNQTLPHPDLIHMQPPLLSPTPNDTSLSKTFNPLVVVGLSRVDGDDVEMIPSEELESIDEDYPEDDYVTYNDPYKTDTRANVNSSRNPDTIAAWYLRSFGGNKKFYYIAAEEISWDYSKFAPSEMDNEETDNTPKDTTYKKVVFRKYLDSTFTSRDPQGEYEEHLGILGPVIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKNYEDDSPKWFQEDDAVQPNSSYTYVWHATERAGPENPGSACRAWVYYSAVDVERDIHSGLIGPLLICRKGTLDRASNLPLDMREFVLLFMVFDEKKSWYYEKSKGSWRIESPEAKNSHEFYAINGMIYNLPGLRMYEQEWVRLYLLNMGGPQDIHVVHFHGQILLDNRTKQHHLGVWPLLPGSFKTLEMKASKPGWWLLDTAVGENQIAGMQTPFLIIDKECKMPMGLSTGAISDSQIKASEYLTYWEPRLARLNNGGSYNAWSIEKSALDFPIKPWIQVDMEKEVVVTGIQTQGAKYYLKSCFTTEFQVAYSSDRTNWQIFRGNSMKSVMSFAGNSDASTIKENRFDPPIVARYIRIHPTKSYNRPTLRLELLGCEVNGCSTPLGLEDGRIQNKQITASSFKKSWWGSYWEPSLARLNAQGRVNAWQAKANNNKQWLQIDLLKIKKVTAIVTQGCKSLSSEMYVKSYSILYSDQGVSWKPYRQKSSMVDKIFEGNSNTKGHMKNFFNPPIISRFIRIIPKTWNQSIALRLELFGCDIY", "length": 2259 }, "evidence": [ { "id": "P12259", "url": "https://omabrowser.org/oma/group/P12259/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "F1RPW2-1", "protein_name": "Coagulation factor V", "gene_name": "F5", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MFPALPCPWVLVVLGTSWAAWGNLGTEAARVRQFYVAAQSISWNYHPEPTHPSSSPFATSFKKIVYREYEAYFQKEKPPSRMSGLLGPTLYAEVGDIMKVHFRNKADKPLSIHPQGIKYSKFAEGASYPDHTFLVEKMDDAVAPGQEYTYEWNISEDSGPTHNDPPCLTHIYYSYENLIQDFNSGLIGPLLICKKGTLTEDGIQKMFDKQYVLMFAVFDESKSWNQSSSLMYTVNGYVNGTMPDITVCAYDHISWHLIGMSSGPELFSIHFSGQVLEQNHHKVSAITLVSATSTTANMTVSPEGKWPISSLIPKHFQAGMQAYIDIKNCAKKTRKPKKLTRDQRRHIKRWEYFIAAEEVIWDYAPIIPANMDKKYRSLHLDNFSNQIGKHYKKVVYKQYQDESFTKRLENPNNKEDGILGPVIRAQVRDTLKIVFKNMASRSYSIYPHGVTFSPYEDDVNSSSTSDNNTMIRAVQPGETYTYKWNILESDEPTENDAQCLTRPYYSNVDITRDIASGLIGLLLICKSRSLDKRGIQRTADIEQKAVFAVFDENKSWYIEDNIYKFCENPEKVKRDDPKFYESNIMSTINGYVPESIPTLGFCFDDTVQWHFCSVGNQNNILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTTMNSNPRNKKLQLKFRDVKCIRDDDEDSYEIIYEPSSSTTLTTRKMHDSSENKEEENDDEYDYQDLLASVLGIRSFRNSSLYQEDDEFNLTALALENNSEFIPPSTDRAVDSNSSSPGNISRAPANTFTEPQKILPHPEATKAGSPRRHTGLVKNLVLNRRRTQHSDPYSEDPIENPLQSVITGISLLPFGTEGFRNREHPKHKRFKAGRDQAAKHRFSQMEFPAHKTGRHISQDNSSSSSIGPLEDLSSDLLLLERKDPSTINGKWHLVSEKGSYEIVQDADEDMAVNKLPNNPQNASRSWGENIPFTNKHGKQRGHPIFVTRHKLLQERQDEGNSILKKGRFFIRTRRKKKERKPVHHVPLSPRSFNPLRGEANTPFSDRRQNHSLLLHESNETFPPTDLNQTFPSMNLSLIASHPDHNQNLPNDTHQTSSPLDLYQTVTPDEPYQTAPIQDLDPTHSTAVPSHQSSLPEPIQMHDYDLRNKASPTDVSEMFFSLKLKAGHRTTSPDLNQPSFSPELSQTTLSPDPGHVTLSQDLSQTTLSPDLSHTTLSPDLGHTTLSPDLSHTTLSPDLSQTTLSPDLSHTTLSPDLGHATLSPDLSHTTLSPDLGHATLSPDLSHTTLSPDLGHTTLSPDLGHTTLSPDFSQTTLSPDLGHTTLSSDLSHTTLSPDLSHTTLSPDLSHTTLSPDLGHTTLSPDFSQTTLSPDLGHMTLSPDLSHTTLSPDLGHTTLSPDFSHTTLSPDLGHMTLSPDLDQTTLSLDFGQTTLSPDLSHMTLSSELSHETVSPDLSHVTLSPDLREIPFSPDLRQATLSPDINETTLSPDLRQTSPHLDPDKTSYISESSQSVTLPEFGQTSPFPDLGQRPSPPSHSTLNNTFIPREFNPMVVVGLSRDDGDYVEIIPRQQEENSEEDYVKIDYVEYDDPYQTDVRTDINSSRNPDNIAAWYLRSNNGNRRNYYIAAEELSWDYSKFTQREDIDDVPEHTIYKKVVFRKYLDSTFTKLDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICRKGTLHKENNMPVDMREFVLLFMVFDEKKSWYYEKKFTRSWRLTSSEVKNSHKFHAINGMIYNLPGLRMYEQEWVRLHLLNLGGSRDIHVVHFHGQTLLENGTQQHQLGVWPLLPGSFKTLEMKTSKAGWWLLDTEVGENQRAGMQTPFLIIDRECKMPMGLSTGLIADSQIKASEFWGHWQPKLARLNNGGSYNAWITDKFSGESNSKPWIQVDMQREVVFTGIQTQGAKYYLKSYYTTEFNVAYSSDQRNWRIFKGNSTKNVMYFNGNSDASTITENQFDPPVVARYIRISPTESYNKPALRLELQGCEVNGCSTPLGMESGNIKNEQITASSFKKSWWGDYWEPFRARLNAQGRVNAWQAKANNNNQWLQIDLLKIKKITAITTQGCKSLSSEMYVKRYTIQYSDRGVEWKSYREKSSMVDKIFEGNNNIKGHVKNFFNPPIISRFIRIIPKMWNQSIALRLELFGCDIY", "length": 2258 }, "evidence": [ { "id": "P12259", "url": "https://omabrowser.org/oma/group/P12259/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "O88783-1", "protein_name": "Coagulation factor V", "gene_name": "F5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLLVCPCFFLLVVLGTRWAGWGSHQAEAAQLRQFYVAAQGILWNYHPEPTDPSLNSIPSFKKIVYREYEQYFKKEKPRSSNSGLLGPTLYAEVGDVIKVHFRNKADKPLSIHPQGIKYSKFSEGASYADHTFPAERKDDAVAPGEEYTYEWIVSEDSGPTPDDPPCLTHIYYSYENLTQDFNSGLIGPLLICKKGTLTEDGTQKMFDKQHVLLFAVFDESKSRSQSPSLMYTINGFVNKTMPDITVCAHDHVSWHLIGMSSGPELFSIHFNGQVLEQNQHKVSTVTLVSATSTTANMTMSPEGRWIVSSLIPKHYQAGMQAYIDIKNCPKKTRSPKTLTREQRRYMKRWEYFIAAEEVIWNYAPVIPANMDKIYRSQHLDNFSNQIGKHYKKVIYRQYEEETFTKRTDNPSIKQSGILGPVIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDGINSSSTSGSHTTIRPVQPGETFTYKWNILEFDEPTENDAQCLTRPYYSDVDVTRDIASGLIGLLLICKSRSLDQRGVQRVADIEQQAVFAVFDENKSWYIEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESISTLGFCFDDTVQWHFCSVGTHDDILTIHFTGHSFIYGRRHEDTLTLFPMRGESVTVTMDNVGTWMLTTMNSNPKRRNLRLRFRDVKCNRDYDNEDSYEIYEPPAPTSMTTRRIHDSLENEFGIDNEDDDYQYLLASSLGIRSFKNSSLNPEENEFNLTALALENSSEFISPSTDRVVDSNSSRILSKIINNNLKDFQRTLPGSGATVAGTLLRNLIGLDENFVLNSSTEHRSSSYHENDMENPQSNITMVYLLPLGPKGSGNREQDKPKTIKTGRPHMMKHRFSWMKAPAGKTGRHSNPKNSYSGMKSEEDIPSELIPLKQKITSKFLNRRWRVASEKGSYEIIAANGEDTDVDKLTNSPQNQNITVPRGESTSHTNTTRKPSDLPTFSGVGHKSPHVRQEEENSGFQKRQLFIRTRKKKKNKKLALHSPLSPRGFDPLRGHNHSPFPDRRLLNHSLLLHKSNETALSPDLNQTSPSMSTDRSLPDYNQYSKNDTEQMSSSLDLYQSVPAEEHSPTFPAQDPDQTHSTTDPSYRSSPPELSQGLDYDLSHDFYPDDIGLTSFFPDQSQKSSFSSDDDQAIPSSDLSLFTISPELDQTIIYPDLDQLLLSPEDNQKTSSPDLGQVPLSPDDNQKTSSPDLGQVSLSPDDNQKTSSPDLGQVPLSLDDNQKTTSPDLGQVPLSPDDNQMITSPDLGQVPLSSDNQKTSSPDLGQVPLFPEDNQNYFLDLSQVPLSSDQNQETSSTDLLTLSPDFGQTVLSPDLDQLPLPSDNSQVTVSPDLSLLTLSPDFNEIILAPDLGQVTLSPDLIQTNPALNHGHKASSADPDQASYPPDSGQASSLPELNRTLPHPDLTHIPPPSPSPTLNNTSLSRKFNPLVVVGLSRVDGDDVEIVPSEEPERIDEDYAEDDFVTYNDPYRTDTRTDVNSSRNPDTIAAWYLRGHGGHKKFYYIAAEEITWNYAEFAQSEMDHEDTGHTPKDTTYKKVVFRKYLDSTFTSRDPRAEYEEHLGILGPVIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDESPEWFQEDDAVQPNSSYTYVWHATKRSGPENPGSACRAWAYYSAVNVERDIHSGLIGPLLICRKGTLHMERNLPMDMREFVLLFMVFDEKKSWYYEKSKGSRRIESPEEKNAHKFYAINGMIYNLPGLRMYEQEWVRLHLLNMGGSRDIHVVHFHGQTLLDNRTKQHQLGVWPLLPGSFKTLEMKASKPGWWLLDTEVGENQVAGMQTPFLIIDKECKMPMGLSTGVISDSQIKASEYLTYWEPRLARLNNAGSYNAWSIEKTALDFPIKPWIQVDMQKEVVVTGIQTQGAKHYLKSCFTTEFQVAYSSDQTNWQIFRGKSGKSVMYFTGNSDGSTIKENRLDPPIVARYIRIHPTKSYNRPTLRLELQGCEVNGCSTPLGLEDGRIQDKQITASSFKKSWWGDYWEPSLARLNAQGRVNAWQAKANNNKQWLQVDLLKIKKVTAIVTQGCKSLSSEMYVKSYSIQYSDQGVAWKPYRQKSSMVDKIFEGNSNTKGHMKNFFNPPIISRFIRIIPKTWNQSIALRLELFGCDIY", "length": 2183 }, "evidence": [ { "id": "45917868", "url": "http://www.informatics.jax.org/homology/45917868", "database": "MGI" }, { "id": "P12259", "url": "https://omabrowser.org/oma/group/P12259/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" }, { "name": "response to vitamin K", "id": "GO:0032571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032571", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "coagulation factor V N-glycosylated 1 (human)", "definition": "A coagulation factor V (human) that has been N-glycosylated at the residue equivalent to Asn-297 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G05428EU. Example: UniProtKB:P12259-1, Asn-297, MOD:00160~GNO:G05428EU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054986", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054986" } ] }, { "name": "coagulation factor V N-glycosylated 2 (human)", "definition": "A coagulation factor V (human) that has been N-glycosylated at the residue equivalent to Asn-297 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G57776ZU. Example: UniProtKB:P12259-1, Asn-297, MOD:00160~GNO:G57776ZU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054987", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054987" } ] }, { "name": "coagulation factor V N-glycosylated 3 (human)", "definition": "A coagulation factor V (human) that has been N-glycosylated at the residue equivalent to Asn-821 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P12259-1, Asn-821, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000054988", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054988" } ] }, { "name": "coagulation factor V O-glycosylated 1 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1053 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1053, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054989", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054989" } ] }, { "name": "coagulation factor V O-glycosylated 2 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1148 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1148, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054990", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054990" } ] }, { "name": "coagulation factor V O-glycosylated 3 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1148 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12259-1, Ser-1148, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054991", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054991" } ] }, { "name": "coagulation factor V O-glycosylated 4 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1150 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1150, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054992", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054992" } ] }, { "name": "coagulation factor V O-glycosylated 5 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1200 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1200, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054993", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054993" } ] }, { "name": "coagulation factor V O-glycosylated 6 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1263 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1263, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054994", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054994" } ] }, { "name": "coagulation factor V O-glycosylated 7 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1268 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1268, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054995", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054995" } ] }, { "name": "coagulation factor V O-glycosylated 8 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1290 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1290, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054996", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054996" } ] }, { "name": "coagulation factor V O-glycosylated 9 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1308 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1308, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054997", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054997" } ] }, { "name": "coagulation factor V O-glycosylated 10 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-1313 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-1313, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054998", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054998" } ] }, { "name": "coagulation factor V O-glycosylated 11 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-832 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-832, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000054999", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000054999" } ] }, { "name": "coagulation factor V O-glycosylated 12 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Ser-900 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Ser-900, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055000", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055000" } ] }, { "name": "coagulation factor V O-glycosylated 13 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1120 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1120, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055001", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055001" } ] }, { "name": "coagulation factor V O-glycosylated 14 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1129 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1129, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055002", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055002" } ] }, { "name": "coagulation factor V O-glycosylated 15 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1194 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1194, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055003", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055003" } ] }, { "name": "coagulation factor V O-glycosylated 16 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1202 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P12259-1, Thr-1202, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055004", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055004" } ] }, { "name": "coagulation factor V O-glycosylated 17 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1202 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1202, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055005", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055005" } ] }, { "name": "coagulation factor V O-glycosylated 18 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1211 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G27391WQ. Example: UniProtKB:P12259-1, Thr-1211, MOD:00005~GNO:G27391WQ. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055006", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055006" } ] }, { "name": "coagulation factor V O-glycosylated 19 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1211 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12259-1, Thr-1211, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055007", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055007" } ] }, { "name": "coagulation factor V O-glycosylated 20 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1211 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P12259-1, Thr-1211, MOD:00005~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055008", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055008" } ] }, { "name": "coagulation factor V O-glycosylated 21 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1212 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P12259-1, Thr-1212, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055009", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055009" } ] }, { "name": "coagulation factor V O-glycosylated 22 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1212 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1212, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055010", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055010" } ] }, { "name": "coagulation factor V O-glycosylated 23 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1238 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12259-1, Thr-1238, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055011", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055011" } ] }, { "name": "coagulation factor V O-glycosylated 24 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1239 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1239, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055012", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055012" } ] }, { "name": "coagulation factor V O-glycosylated 25 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1265 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1265, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055013", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055013" } ] }, { "name": "coagulation factor V O-glycosylated 26 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1284 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1284, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055014", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055014" } ] }, { "name": "coagulation factor V O-glycosylated 27 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1292 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1292, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055015", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055015" } ] }, { "name": "coagulation factor V O-glycosylated 28 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1310 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1310, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055016", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055016" } ] }, { "name": "coagulation factor V O-glycosylated 29 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1329 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1329, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055017", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055017" } ] }, { "name": "coagulation factor V O-glycosylated 30 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1364 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12259-1, Thr-1364, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055018", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055018" } ] }, { "name": "coagulation factor V O-glycosylated 31 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1410 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1410, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055019", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055019" } ] }, { "name": "coagulation factor V O-glycosylated 32 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-1418 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-1418, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055020", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055020" } ] }, { "name": "coagulation factor V O-glycosylated 33 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-804 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P12259-1, Thr-804, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055021", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055021" } ] }, { "name": "coagulation factor V O-glycosylated 34 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-805 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P12259-1, Thr-805, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055022", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055022" } ] }, { "name": "coagulation factor V O-glycosylated 35 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-805 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-805, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055023", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055023" } ] }, { "name": "coagulation factor V O-glycosylated 36 (human)", "definition": "A coagulation factor V (human) that has been O-glycosylated at the residue equivalent to Thr-986 of the amino acid sequence represented by UniProtKB:P12259-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P12259-1, Thr-986, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000055024", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000055024" } ] } ], "site_annotation": [ { "start_pos": 1074, "end_pos": 1076, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1083, "end_pos": 1085, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1103, "end_pos": 1105, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1106, "end_pos": 1108, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1203, "end_pos": 1205, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1221, "end_pos": 1223, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1257, "end_pos": 1259, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1266, "end_pos": 1268, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1293, "end_pos": 1295, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1311, "end_pos": 1313, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1338, "end_pos": 1340, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1347, "end_pos": 1349, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1374, "end_pos": 1376, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1383, "end_pos": 1385, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1479, "end_pos": 1481, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1499, "end_pos": 1501, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1559, "end_pos": 1561, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1703, "end_pos": 1705, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2010, "end_pos": 2012, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2209, "end_pos": 2211, "annotation": "n_glycosylation_sequon" }, { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" }, { "start_pos": 297, "end_pos": 299, "annotation": "n_glycosylation_sequon" }, { "start_pos": 382, "end_pos": 384, "annotation": "n_glycosylation_sequon" }, { "start_pos": 460, "end_pos": 462, "annotation": "n_glycosylation_sequon" }, { "start_pos": 468, "end_pos": 470, "annotation": "n_glycosylation_sequon" }, { "start_pos": 51, "end_pos": 53, "annotation": "n_glycosylation_sequon" }, { "start_pos": 554, "end_pos": 556, "annotation": "n_glycosylation_sequon" }, { "start_pos": 55, "end_pos": 57, "annotation": "n_glycosylation_sequon" }, { "start_pos": 667, "end_pos": 669, "annotation": "n_glycosylation_sequon" }, { "start_pos": 741, "end_pos": 743, "annotation": "n_glycosylation_sequon" }, { "start_pos": 752, "end_pos": 754, "annotation": "n_glycosylation_sequon" }, { "start_pos": 760, "end_pos": 762, "annotation": "n_glycosylation_sequon" }, { "start_pos": 776, "end_pos": 778, "annotation": "n_glycosylation_sequon" }, { "start_pos": 782, "end_pos": 784, "annotation": "n_glycosylation_sequon" }, { "start_pos": 821, "end_pos": 823, "annotation": "n_glycosylation_sequon" }, { "start_pos": 938, "end_pos": 940, "annotation": "n_glycosylation_sequon" }, { "start_pos": 977, "end_pos": 979, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Activated protein C inactivates factor V and factor Va by proteolytic degradation.", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "PubMed", "id": "7989361", "url": "https://glygen.org/publication/PubMed/7989361" } ] }, { "annotation": "Phosphorylated by FAM20C in the extracellular medium.", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] }, { "annotation": "Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity.", "evidence": [ { "database": "UniProtKB", "id": "P12259", "url": "https://www.uniprot.org/uniprot/P12259" }, { "database": "PubMed", "id": "8204629", "url": "https://glygen.org/publication/PubMed/8204629" }, { "database": "PubMed", "id": "2168225", "url": "https://glygen.org/publication/PubMed/2168225" }, { "database": "PubMed", "id": "7989361", "url": "https://glygen.org/publication/PubMed/7989361" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 51, 55, 239, 297, 382, 460, 468, 554, 741, 752, 760, 776, 782, 821, 938, 977, 1074, 1083, 1103, 1106, 1221, 1479, 1499, 1559, 1698, 1703, 2010, 2064, 2181, 2209 ], "o_linked_sites": [ 310, 786, 797, 804, 805, 832, 851, 898, 900, 917, 985, 986, 1044, 1047, 1053, 1120, 1129, 1148, 1150, 1184, 1187, 1191, 1194, 1196, 1200, 1202, 1211, 1212, 1223, 1232, 1238, 1239, 1247, 1263, 1265, 1268, 1277, 1283, 1284, 1290, 1292, 1295, 1299, 1302, 1304, 1308, 1310, 1313, 1322, 1329, 1364, 1398, 1403, 1410, 1418, 1481, 1516, 1520, 1594, 1868, 1926, 1990, 2053 ], "snv_sites": [ 53, 55, 225, 282, 310, 331, 338, 345, 384, 387, 451, 453, 461, 462, 471, 556, 564, 596, 741, 743, 778, 784, 792, 804, 805, 816, 821, 848, 900, 917, 938, 977, 985, 986, 992, 1021, 1053, 1067, 1074, 1076, 1085, 1103, 1108, 1120, 1148, 1150, 1161, 1184, 1191, 1194, 1196, 1200, 1202, 1209, 1211, 1212, 1223, 1232, 1247, 1263, 1265, 1268, 1279, 1282, 1284, 1290, 1292, 1295, 1300, 1308, 1310, 1313, 1322, 1327, 1329, 1363, 1364, 1371, 1380, 1398, 1403, 1410, 1419, 1425, 1481, 1499, 1501, 1516, 1520, 1559, 1625, 1703, 1705, 1854, 1868, 1926, 1942, 1976, 2002, 2010, 2012, 2016, 2066, 2088, 2132, 2192 ], "glycation_sites": [], "phosphorylation_sites": [ 640, 692, 693, 720, 859, 955, 1047, 1053, 1056, 1058, 1148, 1150 ], "sequon_annotation_sites": [ { "start_pos": 1074, "end_pos": 1076 }, { "start_pos": 1083, "end_pos": 1085 }, { "start_pos": 1103, "end_pos": 1105 }, { "start_pos": 1106, "end_pos": 1108 }, { "start_pos": 1203, "end_pos": 1205 }, { "start_pos": 1221, "end_pos": 1223 }, { "start_pos": 1257, "end_pos": 1259 }, { "start_pos": 1266, "end_pos": 1268 }, { "start_pos": 1293, "end_pos": 1295 }, { "start_pos": 1311, "end_pos": 1313 }, { "start_pos": 1338, "end_pos": 1340 }, { "start_pos": 1347, "end_pos": 1349 }, { "start_pos": 1374, "end_pos": 1376 }, { "start_pos": 1383, "end_pos": 1385 }, { "start_pos": 1479, "end_pos": 1481 }, { "start_pos": 1499, "end_pos": 1501 }, { "start_pos": 1559, "end_pos": 1561 }, { "start_pos": 1703, "end_pos": 1705 }, { "start_pos": 2010, "end_pos": 2012 }, { "start_pos": 2209, "end_pos": 2211 }, { "start_pos": 239, "end_pos": 241 }, { "start_pos": 297, "end_pos": 299 }, { "start_pos": 382, "end_pos": 384 }, { "start_pos": 460, "end_pos": 462 }, { "start_pos": 468, "end_pos": 470 }, { "start_pos": 51, "end_pos": 53 }, { "start_pos": 554, "end_pos": 556 }, { "start_pos": 55, "end_pos": 57 }, { "start_pos": 667, "end_pos": 669 }, { "start_pos": 741, "end_pos": 743 }, { "start_pos": 752, "end_pos": 754 }, { "start_pos": 760, "end_pos": 762 }, { "start_pos": 776, "end_pos": 778 }, { "start_pos": 782, "end_pos": 784 }, { "start_pos": 821, "end_pos": 823 }, { "start_pos": 938, "end_pos": 940 }, { "start_pos": 977, "end_pos": 979 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 256 }, { "field": "total_sites", "count": 92 }, { "field": "n_linked_glycans", "count": 55 }, { "field": "n_linked_glycan_sites", "count": 41 }, { "field": "o_linked_glycans", "count": 17 }, { "field": "o_linked_glycan_sites", "count": 62 } ], "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": 13 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "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": 229 }, { "field": "total_sites", "count": 76 }, { "field": "n_linked_glycans", "count": 55 }, { "field": "n_linked_glycan_sites", "count": 14 }, { "field": "o_linked_glycans", "count": 17 }, { "field": "o_linked_glycan_sites", "count": 62 } ], "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": 13 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "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_automatic_literature_mining", "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 135 }, { "field": "total_sites", "count": 106 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 32 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 100 }, { "field": "total_sites", "count": 79 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 233 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }