{ "uniprot_canonical_ac": "A0A0G2K3W2-1", "uniprot_ac": "A0A0G2K3W2", "uniprot_id": "A0A0G2K3W2_RAT", "mass": { "chemical_mass": 255158.0, "monoisotopic_mass": 255158.0 }, "refseq": {}, "gene_names": [ { "name": "F5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K3W2", "id": "A0A0G2K3W2" } ], "protein_names": [ { "name": "Coagulation factor V", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2K3W2" } ], "function": [], "disease": [ { "disease_id": "DOID:0050860", "recommended_name": { "id": "DOID:0050860", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum." }, "synonyms": [], "evidence": [ { "id": "0050860", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ] }, { "disease_id": "DOID:0050864", "recommended_name": { "id": "DOID:0050864", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease." }, "synonyms": [ { "id": "DOID:0050864", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050864", "name": "non-arteritic anterior ischaemic optic neuropathy", "description": "" }, { "id": "DOID:0050864", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050864", "name": "nonarteritic anterior ischaemic optic neuropathy", "description": "" }, { "id": "DOID:0050864", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050864", "name": "nonarteritic anterior ischemic optic neuropathy", "description": "" } ], "evidence": [ { "id": "0050864", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ] }, { "disease_id": "DOID:0060903", "recommended_name": { "id": "DOID:0060903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system." }, "synonyms": [], "evidence": [ { "id": "0060903", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ] }, { "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": "0111902", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111902" } ] }, { "disease_id": "DOID:10003", "recommended_name": { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." }, "synonyms": [ { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High Frequency Hearing Loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "High frequency deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Perceptive hearing loss or deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensorineural Deafness", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "Sensory hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "central hearing loss", "description": "" }, { "id": "DOID:10003", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10003", "name": "high-frequency hearing loss", "description": "" } ], "evidence": [ { "id": "10003", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ] }, { "disease_id": "DOID:10159", "recommended_name": { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone." }, "synonyms": [ { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "Avascular necrosis of bone", "description": "" }, { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "aseptic necrosis", "description": "" }, { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "bone necrosis", "description": "" } ], "evidence": [ { "id": "10159", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ] }, { "disease_id": "DOID:10591", "recommended_name": { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." }, "synonyms": [ { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "gestational hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "hypertension induced by pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pre-eclamptic toxaemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "preeclampsia/eclampsia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy associated hypertension", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "pregnancy toxemia", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "proteinuric hypertension of pregnancy", "description": "" }, { "id": "DOID:10591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10591", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "Preeclampsia/eclampsia type 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "STOX1 preeclampsia", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia caused by mutation in STOX1", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "preeclampsia/eclampsia 4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PEE4", "description": "" }, { "id": "MONDO:0012266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012266", "name": "PREECLAMPSIA/eclampsia 4", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "preeclampsia/eclampsia 3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PEE3", "description": "" }, { "id": "MONDO:0012265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012265", "name": "PREECLAMPSIA/eclampsia 3", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "preeclampsia/eclampsia 2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PEE2", "description": "" }, { "id": "MONDO:0012264", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012264", "name": "PREECLAMPSIA/eclampsia 2", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "preeclampsia/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxaemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "toxemia of pregnancy", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PEE1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREECLAMPSIA/eclampsia 1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "PREG1", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hemolysis, elevated liver enzymes, and low platelet count", "description": "" }, { "id": "MONDO:0100467", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100467", "name": "hypertension, pregnancy-induced", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome 1", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "FGFR2-related bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "perinatal lethal bent bone dysplasia", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "BBDS", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia (BBD)-FGFR2 type", "description": "" }, { "id": "MONDO:0013815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013815", "name": "bent bone dysplasia syndrome", "description": "" }, { "id": "MIM:609404", "resource": "MIM", "url": "https://www.omim.org/entry/609404", "name": "Pre-eclampsia/eclampsia 4", "description": "Pre-eclampsia/eclampsia 4" }, { "id": "MIM:614592", "resource": "MIM", "url": "https://www.omim.org/entry/614592", "name": "Bent bone dysplasia syndrome 1", "description": "Bent bone dysplasia syndrome 1" } ], "evidence": [ { "id": "10591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ] }, { "disease_id": "DOID:10762", "recommended_name": { "id": "DOID:10762", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10762", "name": "portal hypertension", "description": "" }, "synonyms": [], "evidence": [ { "id": "10762", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ] }, { "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": "11512", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ] }, { "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" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1727", "recommended_name": { "id": "DOID:1727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1727", "name": "retinal vein occlusion", "description": "" }, "synonyms": [ { "id": "DOID:1727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1727", "name": "Occlusion, of retinal vein", "description": "" } ], "evidence": [ { "id": "1727", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ] }, { "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": "2216", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2216" } ] }, { "disease_id": "DOID:2237", "recommended_name": { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "hepatitis", "description": "" }, "synonyms": [ { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "acute and subacute liver necrosis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "acute hepatitis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "acute/subac. necrosis of liver", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "animal hepatitis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "chronic hepatitis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "chronic persistent hepatitis", "description": "" } ], "evidence": [ { "id": "2237", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ] }, { "disease_id": "DOID:2920", "recommended_name": { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "" }, "synonyms": [ { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "Lobular glomerulonephritis", "description": "" }, { "id": "DOID:2920", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2920", "name": "chronic glomerulonephritis, lobular", "description": "" }, { "id": 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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", 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It is usually caused by alcoholism, hepatitis B, and hepatitis C. 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46806:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "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": "1589758", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1589758", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K3W2", "url": "https://www.uniprot.org/uniprot/A0A0G2K3W2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K3W2-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K3W2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TPK2", "url": "https://www.uniprot.org/uniprot/Q7TPK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TPK2-1", "url": "https://www.uniprot.org/uniprot/Q7TPK2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLATGGRDLTKPLPTLGIEGKGGRVIQPPLGTGTLTAPNSFLVLQGVRTARSRDRALSTVSRGSARGRTRAMFLVCPRFFLLVVLGTRWAGWGSHQAEAAQLRQFYVAAQGILWNYHPESADPSLNSIPSFKKIVYREYEPYFKKEKPRSSNSGLLGPTLYAEVGDTIKVHFRNKADKPLSIHPQGIRYSKFSEGASYLDHTSPAERKDDAVAAGEEYTYEWFIGEDSGPTPDDPPCLTHIYYSYENLTQDFNSGLIGPLLICKEGTLTEDGTQKMFDKQHVLLFAVFDESKSWSQSPALMYTVNGFVNRTMPDVTVCAYDHVSWHLIGMSSGPELFSIHFNGQVLEQNQHKVSTVTLVSATSTTANMTMSPEGKWIVSSLIPKHYQAGMQAYIDIKNCPKKTRSSKTLTREQRRHMKRWEYFIAAEEVIWNYAPVIPANMDKLYKSLHLDNFSNQIGKHYKKVIYREYKDETFTKRIENQSSRQSGILGPIIKAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDGVNSSSTSGSHTMIKPVQPGETFTYKWNILEFDEPTENDAQCLTRPYYSDVDVTRDIASGLIGLLLICKSRSLDQRGIQRVADMEQEVVFAMFDENKSWYIEDNINKFCENPDEVKRDDPKFYESNIMNTINGYVPESISTLGFCFDDAVQWHFCSVGTHDDILTVHFTGHSFIYGRRHEDTLTLFPMSGESVTVVMDNIGTWMLTTMSSNPRRRNLRLRFRDVKCNRNDDDDEDSYEIYQPLEPTSMTTRKIHDSVENDFGIENEDDDYQYELASTLGIRSFRKSLLNPKEDEFNLTALALENSSEFISLSTDGVVDSKSSRNLSKITNNNLNDSQRTLSGSGATIAGILLGNLTGLGKNSVLNPSTEYHSSSYYENDMEDPQSNITVVYLLPLGAKGSGSREQTKPKTIKTGRPHRMKHRFSWMKAPAGKTGRHSNPKNTSSRMKSEEDIPSDLLLLKQKVASKLLNRQWHMASEKGSYEIIPANGENTDIDKLTNSPQNQNISTPWGASTSRINTTGKPSNLPTFSRFRHKSPHVRQEEESGDFKKRQLFIRTRKKKKNRKFALHSPLSPRGFYHPRREDHPPLLDRRLLNHSLLLHKSNETALSTDLNQTSPPVSTDRSLPDYNQNPSNDTEQMSSSLDLFQSVPPEEHSPTFPTQDPNQTHSTTDPSYRSSPPEPSQGIDYDLSHEFYSDDISQTSFFPDQSQKSPLTSDDGQAIPSSDLNLFTISPELDQTIIYPDLDQLFLSPDDIQKTSSQDLGQVTLSPDENQETSSQDLGQVTLSPNENQETSSQDLGQVTLSPDDIQETSSQDLGQVTLSPDENQETSSPDLGQVPLTPDDNQKTSPDLGQVLLSLDDKQKTYFLDPGQVPISSDQSWETSSTDLSLLTLSPKFGQTVISPDLDKMPLSSDNSQVTLSPDLSLLTLSPDFNEIILSPDIDQVTLSPDLIQTSPALNHRHKTSSADPGQASYPPDSGQSSPLPELNQTLPHPDLIHMQPPLLSPTPNDTSLSKTFNPLVVVGLSRVDGDDVEMIPSEELESIDEDYPEDDYVTYNDPYKTDTRANVNSSRNPDTIAAWYLRSFGGNKKFYYIAAEEISWDYSKFAPSEMDNEETDNTPKDTTYKKVVFRKYLDSTFTSRDPQGEYEEHLGILGPVIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKNYEDDSPKWFQEDDAVQPNSSYTYVWHATERAGPENPGSACRAWVYYSAVDVERDIHSGLIGPLLICRKGTLDRASNLPLDMREFVLLFMVFDEKKSWYYEKSKGSWRIESPEAKNSHEFYAINGMIYNLPGLRMYEQEWVRLYLLNMGGPQDIHVVHFHGQILLDNRTKQHHLGVWPLLPGSFKTLEMKASKPGWWLLDTAVGENQIAGMQTPFLIIDKECKMPMGLSTGAISDSQIKASEYLTYWEPRLARLNNGGSYNAWSIEKSALDFPIKPWIQVDMEKEVVVTGIQTQGAKYYLKSCFTTEFQVAYSSDRTNWQIFRGNSMKSVMSFAGNSDASTIKENRFDPPIVARYIRIHPTKSYNRPTLRLELLGCEVNGCSTPLGLEDGRIQNKQITASSFKKSWWGSYWEPSLARLNAQGRVNAWQAKANNNKQWLQIDLLKIKKVTAIVTQGCKSLSSEMYVKSYSILYSDQGVSWKPYRQKSSMVDKIFEGNSNTKGHMKNFFNPPIISRFIRIIPKTWNQSIALRLELFGCDIY", "length": 2259, "header": "tr|A0A0G2K3W2-1|A0A0G2K3W2_RAT Isoform 1 of Coagulation factor V OS=Rattus norvegicus OX=10116 GN=F5 PE=1 SV=2 CANONICAL=A0A0G2K3W2-1" }, "isoforms": [ { "isoform_ac": "A0A0G2K3W2-1", "url": "", "sequence": { "sequence": "MPLATGGRDLTKPLPTLGIEGKGGRVIQPPLGTGTLTAPNSFLVLQGVRTARSRDRALSTVSRGSARGRTRAMFLVCPRFFLLVVLGTRWAGWGSHQAEAAQLRQFYVAAQGILWNYHPESADPSLNSIPSFKKIVYREYEPYFKKEKPRSSNSGLLGPTLYAEVGDTIKVHFRNKADKPLSIHPQGIRYSKFSEGASYLDHTSPAERKDDAVAAGEEYTYEWFIGEDSGPTPDDPPCLTHIYYSYENLTQDFNSGLIGPLLICKEGTLTEDGTQKMFDKQHVLLFAVFDESKSWSQSPALMYTVNGFVNRTMPDVTVCAYDHVSWHLIGMSSGPELFSIHFNGQVLEQNQHKVSTVTLVSATSTTANMTMSPEGKWIVSSLIPKHYQAGMQAYIDIKNCPKKTRSSKTLTREQRRHMKRWEYFIAAEEVIWNYAPVIPANMDKLYKSLHLDNFSNQIGKHYKKVIYREYKDETFTKRIENQSSRQSGILGPIIKAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDGVNSSSTSGSHTMIKPVQPGETFTYKWNILEFDEPTENDAQCLTRPYYSDVDVTRDIASGLIGLLLICKSRSLDQRGIQRVADMEQEVVFAMFDENKSWYIEDNINKFCENPDEVKRDDPKFYESNIMNTINGYVPESISTLGFCFDDAVQWHFCSVGTHDDILTVHFTGHSFIYGRRHEDTLTLFPMSGESVTVVMDNIGTWMLTTMSSNPRRRNLRLRFRDVKCNRNDDDDEDSYEIYQPLEPTSMTTRKIHDSVENDFGIENEDDDYQYELASTLGIRSFRKSLLNPKEDEFNLTALALENSSEFISLSTDGVVDSKSSRNLSKITNNNLNDSQRTLSGSGATIAGILLGNLTGLGKNSVLNPSTEYHSSSYYENDMEDPQSNITVVYLLPLGAKGSGSREQTKPKTIKTGRPHRMKHRFSWMKAPAGKTGRHSNPKNTSSRMKSEEDIPSDLLLLKQKVASKLLNRQWHMASEKGSYEIIPANGENTDIDKLTNSPQNQNISTPWGASTSRINTTGKPSNLPTFSRFRHKSPHVRQEEESGDFKKRQLFIRTRKKKKNRKFALHSPLSPRGFYHPRREDHPPLLDRRLLNHSLLLHKSNETALSTDLNQTSPPVSTDRSLPDYNQNPSNDTEQMSSSLDLFQSVPPEEHSPTFPTQDPNQTHSTTDPSYRSSPPEPSQGIDYDLSHEFYSDDISQTSFFPDQSQKSPLTSDDGQAIPSSDLNLFTISPELDQTIIYPDLDQLFLSPDDIQKTSSQDLGQVTLSPDENQETSSQDLGQVTLSPNENQETSSQDLGQVTLSPDDIQETSSQDLGQVTLSPDENQETSSPDLGQVPLTPDDNQKTSPDLGQVLLSLDDKQKTYFLDPGQVPISSDQSWETSSTDLSLLTLSPKFGQTVISPDLDKMPLSSDNSQVTLSPDLSLLTLSPDFNEIILSPDIDQVTLSPDLIQTSPALNHRHKTSSADPGQASYPPDSGQSSPLPELNQTLPHPDLIHMQPPLLSPTPNDTSLSKTFNPLVVVGLSRVDGDDVEMIPSEELESIDEDYPEDDYVTYNDPYKTDTRANVNSSRNPDTIAAWYLRSFGGNKKFYYIAAEEISWDYSKFAPSEMDNEETDNTPKDTTYKKVVFRKYLDSTFTSRDPQGEYEEHLGILGPVIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKNYEDDSPKWFQEDDAVQPNSSYTYVWHATERAGPENPGSACRAWVYYSAVDVERDIHSGLIGPLLICRKGTLDRASNLPLDMREFVLLFMVFDEKKSWYYEKSKGSWRIESPEAKNSHEFYAINGMIYNLPGLRMYEQEWVRLYLLNMGGPQDIHVVHFHGQILLDNRTKQHHLGVWPLLPGSFKTLEMKASKPGWWLLDTAVGENQIAGMQTPFLIIDKECKMPMGLSTGAISDSQIKASEYLTYWEPRLARLNNGGSYNAWSIEKSALDFPIKPWIQVDMEKEVVVTGIQTQGAKYYLKSCFTTEFQVAYSSDRTNWQIFRGNSMKSVMSFAGNSDASTIKENRFDPPIVARYIRIHPTKSYNRPTLRLELLGCEVNGCSTPLGLEDGRIQNKQITASSFKKSWWGSYWEPSLARLNAQGRVNAWQAKANNNKQWLQIDLLKIKKVTAIVTQGCKSLSSEMYVKSYSILYSDQGVSWKPYRQKSSMVDKIFEGNSNTKGHMKNFFNPPIISRFIRIIPKTWNQSIALRLELFGCDIY", "length": 2259, "header": "tr|A0A0G2K3W2-1|A0A0G2K3W2_RAT Isoform 1 of Coagulation factor V OS=Rattus norvegicus OX=10116 GN=F5 PE=1 SV=2 CANONICAL=A0A0G2K3W2-1" }, "locus": { "chromosome": "13", "start_pos": 76582306, "end_pos": 76513437, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000080759.2", "url": "https://www.ensembl.org/id/ENSRNOT00000080759.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000072800.2", "url": "https://www.ensembl.org/id/ENSRNOP00000072800.2" } ] } }, { "isoform_ac": "Q7TPK2-1", "url": "", "sequence": { "sequence": "MQSSEGQVQEKQAEIRRSDKNHVGAFLYVPLYVFHDLEYKQFQTYPSLGLLGPTLYAEVGDTIKVHFRNKADKPLSIHPQGIRYSKFSEAQLFAEEEMDFAAPFILLRCLFDPPSLSQQALVLLPKRKTGFYVTPLLLEGVPGVHRLSMGLYTMKRGIFTLGQTGFMCPRSRLHAGAGCGDRRGGEEPERASASPFLHTGEWWKTLDVFVAVTSPGASYLDHTSPAERKDDAVAAGEEYTYEWFIGEDSGPTPDDPPCLTHIYYSYENLTQDFNSGLIGPLLICKEGTLTEDGTQKMFDKQHVLLFAVFDESKSWSQSPALMYTVNGFVNRTMPDVTVCAYDHVSWHLIGMSSGPELFSIHFNGQVLEQNQHKVSTVTLLQTVGIFIRPIALNTVQGYIASRGEDLLVPWATRAAGMQAYIDIKNCPKKTRSSKTLTREQRRHMKRWEYFIAAEEVIWNYAPVIPANMDKHSYPLSPMGMWPDDSNRNNGSRMLATVNPCSRCLLRLSHQFYKLGAILVFLYLREGARKSEALVVRHMPFLRVADMEQEVVFAMFDENKSWYIEDNINKFCENPDEVKRDDPKFYESNIMNTINGYVPESISTLGFCFDDAVQWHFCSVGTHDDILTVHFTGHSFIYGRRHEDTLTLFPMSGESVTVVMDNIGTWMLTTMSSNPRRRNLRLRFRDVKCNRNDDDDEDSYEIYQPLEPTSMTTRKIHDSVENDFGIENEDDDYQYELASTLGIRSFRKSLLNPKEDEFNLTALALENSSEFISLSTDGVVDSKSSRNLSKITNNNLNDSQRTLSGSGATIAGILLGNLTGLGKNSVLNPSTEYHSSSYYENDMEDPQSNITVVYLLPLGAKGSGSREQTKPKTIKTGRPHRMKHRFSWMKAPAGKTGRHSNPKNTSSRMKSEEDIPSDLLLLKQKVASKLLNRQWHMASEKGSYEIIPANGENTDIDKLTNSPQNQNISTPWGASTSRINTTGKPSNLPTFSRFRHKSPHVRQEEESGDFKKRQLFIRTRKKKKNRKRLLNHSLLLHKSNETALSTDLNQTSPPVSTDRSLPDYNQNPSNDTEQMSSSLDLFQSVPPEEHSPTFPTQDPNQTHSTTDPSYRSSPPEPSQGIDYDLSHEFYSDDISQTSFFPDQSQKSPLTSDDGQAIPSSDLNLFTISPELDQTIIYPDLDQLFLSPDDIQKTSSQDLGQVTLSPDENQETSSQDLGQVTLSPNENQETSSQDLGQVTLSPDDIQETSSQDLGQVTLSPDENQETSSPDLGQVPLTPDDNQKTSPDLGQVLLSLDDKQKTYFLDPGQVPISSDQSWETSSTDLSLLTLSPKFGQTVISPDLDKMPLSSDNSQVTLSPDLSLLTLSPDFNEIILSPDIDQVTLSPDLIQTSPALNHRHKTSSADPGQASYPPDSGQSSPLPELNQTLPHPDLIHMQPPLLSPTPNDTSLSKTFNPLVVVGLSRVDGDDVEMIPSEELESIDEDYPEDDYVTYNDPYKTDTRANVNSSRNPDTIAAWYLRSFGGNKKFYYIAAEEISWDYSKFAPSEMDNEETDNTPKDTTYKKVVFRKYLDSTFTSRDPQGEYEEHLGILGPVIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKNYEDDSPKWFQEDDAVQPNSSYTYVWHATERAGPENPGSACRAWVYYSAVDVERDIHSGLIGPLLICRKGTLDRASNLPLDMREFVLLFMVFDEKKSWYYEKSKGSWRIESPEAKNSHEFYAINGMIYNLPGLRMYEQEWVRLYLLNMGGPQDIHVVHFHGQILLDNRTKQHHLGVWPLLPECKMPMGLSTGAISDSQIKASEYLSCLGGHARGLTDPVWYSMSPDKIPRSFLIPRLLPKEKYSNAESLSVIIVQTTLSLFLLVLYSFAGNSDASTIKENRFDPPIVARYIRIHPTKSYNRPTLRLELLGCEVNGCSTPLGLEDGRIQNKQITASSFKKSWWGSYWEPSLARLNAQGRVNAWQAKANNNKQWLQIDLLKIKKVTAIVTQGCKSLSSEMYVKSYSILYSDQGVSWKPYRQKSSMVDKIFEGNSNTKGHMKNFFNPPIISRFIRIIPKTWNQSIALRLELFGCDIY", "length": 2102, "header": "tr|Q7TPK2-1|A0A0G2K3W2_RAT Computationally mapped isoform of Coagulation factor V OS=Rattus norvegicus OX=10116 GN=F5 PE=1 SV=1 CANONICAL=A0A0G2K3W2-1" }, "locus": { "chromosome": "13", "start_pos": 76582306, "end_pos": 76524340, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000079872.2", "url": "https://www.ensembl.org/id/ENSRNOT00000079872.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000070280.2", "url": "https://www.ensembl.org/id/ENSRNOP00000070280.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "rno:304929", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:304929", "resource": "KEGG Pathway" } ], "orthologs": [ { "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": "45225338", "url": "http://www.informatics.jax.org/homology/45225338", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P12259-1", "protein_name": "Coagulation factor V", "gene_name": "F5", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MFPGCPRLWVLVVLGTSWVGWGSQGTEAAQLRQFYVAAQGISWSYRPEPTNSSLNLSVTSFKKIVYREYEPYFKKEKPQSTISGLLGPTLYAEVGDIIKVHFKNKADKPLSIHPQGIRYSKLSEGASYLDHTFPAEKMDDAVAPGREYTYEWSISEDSGPTHDDPPCLTHIYYSHENLIEDFNSGLIGPLLICKKGTLTEGGTQKTFDKQIVLLFAVFDESKSWSQSSSLMYTVNGYVNGTMPDITVCAHDHISWHLLGMSSGPELFSIHFNGQVLEQNHHKVSAITLVSATSTTANMTVGPEGKWIISSLTPKHLQAGMQAYIDIKNCPKKTRNLKKITREQRRHMKRWEYFIAAEEVIWDYAPVIPANMDKKYRSQHLDNFSNQIGKHYKKVMYTQYEDESFTKHTVNPNMKEDGILGPIIRAQVRDTLKIVFKNMASRPYSIYPHGVTFSPYEDEVNSSFTSGRNNTMIRAVQPGETYTYKWNILEFDEPTENDAQCLTRPYYSDVDIMRDIASGLIGLLLICKSRSLDRRGIQRAADIEQQAVFAVFDENKSWYLEDNINKFCENPDEVKRDDPKFYESNIMSTINGYVPESITTLGFCFDDTVQWHFCSVGTQNEILTIHFTGHSFIYGKRHEDTLTLFPMRGESVTVTMDNVGTWMLTSMNSSPRSKKLRLKFRDVKCIPDDDEDSYEIFEPPESTVMATRKMHDRLEPEDEESDADYDYQNRLAAALGIRSFRNSSLNQEEEEFNLTALALENGTEFVSSNTDIIVGSNYSSPSNISKFTVNNLAEPQKAPSHQQATTAGSPLRHLIGKNSVLNSSTAEHSSPYSEDPIEDPLQPDVTGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKLLAHKVGRHLSQDTGSPSGMRPWEDLPSQDTGSPSRMRPWKDPPSDLLLLKQSNSSKILVGRWHLASEKGSYEIIQDTDEDTAVNNWLISPQNASRAWGESTPLANKPGKQSGHPKFPRVRHKSLQVRQDGGKSRLKKSQFLIKTRKKKKEKHTHHAPLSPRTFHPLRSEAYNTFSERRLKHSLVLHKSNETSLPTDLNQTLPSMDFGWIASLPDHNQNSSNDTGQASCPPGLYQTVPPEEHYQTFPIQDPDQMHSTSDPSHRSSSPELSEMLEYDRSHKSFPTDISQMSPSSEHEVWQTVISPDLSQVTLSPELSQTNLSPDLSHTTLSPELIQRNLSPALGQMPISPDLSHTTLSPDLSHTTLSLDLSQTNLSPELSQTNLSPALGQMPLSPDLSHTTLSLDFSQTNLSPELSHMTLSPELSQTNLSPALGQMPISPDLSHTTLSLDFSQTNLSPELSQTNLSPALGQMPLSPDPSHTTLSLDLSQTNLSPELSQTNLSPDLSEMPLFADLSQIPLTPDLDQMTLSPDLGETDLSPNFGQMSLSPDLSQVTLSPDISDTTLLPDLSQISPPPDLDQIFYPSESSQSLLLQEFNESFPYPDLGQMPSPSSPTLNDTFLSKEFNPLVIVGLSKDGTDYIEIIPKEEVQSSEDDYAEIDYVPYDDPYKTDVRTNINSSRDPDNIAAWYLRSNNGNRRNYYIAAEEISWDYSEFVQRETDIEDSDDIPEDTTYKKVVFRKYLDSTFTKRDPRGEYEEHLGILGPIIRAEVDDVIQVRFKNLASRPYSLHAHGLSYEKSSEGKTYEDDSPEWFKEDNAVQPNSSYTYVWHATERSGPESPGSACRAWAYYSAVNPEKDIHSGLIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYYEKKSRSSWRLTSSEMKKSHEFHAINGMIYSLPGLKMYEQEWVRLHLLNIGGSQDIHVVHFHGQTLLENGNKQHQLGVWPLLPGSFKTLEMKASKPGWWLLNTEVGENQRAGMQTPFLIMDRDCRMPMGLSTGIISDSQIKASEFLGYWEPRLARLNNGGSYNAWSVEKLAAEFASKPWIQVDMQKEVIITGIQTQGAKHYLKSCYTTEFYVAYSSNQINWQIFKGNSTRNVMYFNGNSDASTIKENQFDPPIVARYIRISPTRAYNRPTLRLELQGCEVNGCSTPLGMENGKIENKQITASSFKKSWWGDYWEPFRARLNAQGRVNAWQAKANNNKQWLEIDLLKIKKITAIITQGCKSLSSEMYVKSYTIHYSEQGVEWKPYRLKSSMVDKIFEGNTNTKGHVKNFFNPPIISRFIRVIPKTWNQSIALRLELFGCDIY", "length": 2224 }, "evidence": [ { "id": "45225338", "url": "http://www.informatics.jax.org/homology/45225338", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3W2", "url": "https://www.uniprot.org/uniprot/A0A0G2K3W2" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3W2", "url": "https://www.uniprot.org/uniprot/A0A0G2K3W2" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K3W2", "url": "https://www.uniprot.org/uniprot/A0A0G2K3W2" } ], "pmid": "" } ] }, { "name": 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