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"gene_names": "F7;Cf7;F7;FVII", "protein_name": "Coagulation factor VII", "disease": [ { "disease_id": "DOID:0080941", "name": "acquired angioedema", "description": "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.", "url": "https://disease-ontology.org/term/DOID:0080941", "evidence": [ { "id": "0080941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080941" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2215", "name": "factor VII deficiency", "description": "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.", "url": "https://disease-ontology.org/term/DOID:2215", "evidence": [ { "id": "2215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2215" } ], "weight": 0.0 }, { "disease_id": "DOID:2235", "name": "prothrombin deficiency", "description": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to thyroxine", "id": "GO:0097068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097068", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P70375", "url": "https://www.uniprot.org/uniprotkb/P70375" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { 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"name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9QZ08", "url": "https://www.uniprot.org/uniprotkb/Q9QZ08" } ], "pmid": "" }, { "name": "UDP-N-acetylglucosamine biosynthetic process", "id": "GO:0006048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006048", "evidence": [ { "database": "UniProtKB", "id": "Q9QZ08", "url": "https://www.uniprot.org/uniprotkb/Q9QZ08" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q9QZ08", "url": "https://www.uniprot.org/uniprotkb/Q9QZ08" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9QZ08", "url": "https://www.uniprot.org/uniprotkb/Q9QZ08" } ], "pmid": 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} ], "biological_process": [ { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q91X97", "url": "https://www.uniprot.org/uniprotkb/Q91X97" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q91X97", "url": "https://www.uniprot.org/uniprotkb/Q91X97" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure", "id": "GO:0003073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003073", "evidence": [ { "database": "UniProtKB", "id": "Q91X97", "url": "https://www.uniprot.org/uniprotkb/Q91X97" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q9EQK5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": 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"P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "muscle organ morphogenesis", "id": "GO:0048644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048644", "evidence": [ { "database": "UniProtKB", "id": "P24699", "url": "https://www.uniprot.org/uniprotkb/P24699" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { 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"phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SX39", "url": "https://www.uniprot.org/uniprotkb/Q5SX39" } ] } ] }, { "uniprot_canonical_ac": "Q5SX39-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Thr776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SX39", "url": "https://www.uniprot.org/uniprotkb/Q5SX39" } ] } ] }, { "uniprot_canonical_ac": "Q5SX39-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SX39", "url": "https://www.uniprot.org/uniprotkb/Q5SX39" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q5SX40-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": 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"https://disease-ontology.org/term/DOID:0080719", "evidence": [ { "id": "0080719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080719" } ], "weight": 0.0 }, { "disease_id": "DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110454", "evidence": [ { "id": "0110454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ], "weight": 0.0 }, { "disease_id": "DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0111269", "evidence": [ { "id": "0111269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111269" } ], "weight": 0.0 }, { "disease_id": "DOID:0111596", "name": "distal arthrogryposis type 1", "description": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.", "url": "https://disease-ontology.org/term/DOID:0111596", "evidence": [ { "id": "0111596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ], "weight": 0.0 }, { "disease_id": "DOID:0111602", "name": "distal arthrogryposis type 2B3", "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111602", "evidence": [ { "id": "0111602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111602" } ], "weight": 0.0 }, { "disease_id": "DOID:0111605", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111605", "evidence": [ { "id": "0111605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111605" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.", "url": "https://disease-ontology.org/term/DOID:11720", "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:2106", "name": "myotonia congenita", "description": "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.", "url": "https://disease-ontology.org/term/DOID:2106", "evidence": [ { "id": "2106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2106" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or 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transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic stem cell proliferation", "id": "GO:1902035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902035", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS6", "url": "https://www.uniprot.org/uniprotkb/Q8JZS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q8R4H7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 527, "chemical_mass": 57489.0, "gene_names": "Nags;1700120E20Rik;Nags;argA", "protein_name": "N-acetylglutamate synthase, mitochondrial", "disease": [ { "disease_id": "DOID:0112258", "name": "N-acetylglutamate synthase deficiency", "description": "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.", "url": "https://disease-ontology.org/term/DOID:0112258", "evidence": [ { "id": "0112258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112258" } ], "weight": 0.0 }, { "disease_id": "DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "L-glutamate N-acetyltransferase activity", "id": "GO:0004042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004042", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "pmid": "" } ], "biological_process": [ { "name": "glutamate metabolic process", "id": "GO:0006536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006536", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "pmid": "" }, { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "pmid": "" }, { "name": "L-arginine biosynthetic process", "id": "GO:0006526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006526", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H7", "url": "https://www.uniprot.org/uniprotkb/Q8R4H7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q8VI47-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1543, "chemical_mass": 173671.0, "gene_names": "Abcc2;Abc30;Abcc2;Cmoat;Mrp2;cMRP", "protein_name": "ATP-binding cassette sub-family C member 2", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12308", "name": "Dubin-Johnson syndrome", "description": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.", "url": "https://disease-ontology.org/term/DOID:12308", "evidence": [ { "id": "12308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12308" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "intracellular chloride ion homeostasis", "id": "GO:0030644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030644", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "glutathione transport", "id": "GO:0034635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034635", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "canalicular bile acid transport", "id": "GO:0015722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015722", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to growth hormone", "id": "GO:0060416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060416", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "heme catabolic process", "id": "GO:0042167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042167", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to mercury ion", "id": "GO:0046689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046689", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], "pmid": "" }, { "name": "xenobiotic export from cell", "id": "GO:0046618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046618", "evidence": [ { "database": "UniProtKB", "id": "Q8VI47", "url": "https://www.uniprot.org/uniprotkb/Q8VI47" } ], 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9QZZ4", "url": "https://www.uniprot.org/uniprotkb/Q9QZZ4" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": 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"Q9WVP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVP9", "url": "https://www.uniprot.org/uniprotkb/Q9WVP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 655, "chemical_mass": 74292.0, "gene_names": "Mx2;Mx-2;Mx2", "protein_name": "Interferon-induced GTP-binding protein Mx2", "disease": [ { "disease_id": "DOID:0110197", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).", "url": "https://disease-ontology.org/term/DOID:0110197", "evidence": [ { "id": "0110197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110197" } ], "weight": 0.0 }, { "disease_id": "DOID:0111223", "name": "centronuclear myopathy 1", "description": "An autosomal dominant centronuclear myopathy characterized by 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reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9WVP9", "url": "https://www.uniprot.org/uniprotkb/Q9WVP9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9WVP9", "url": "https://www.uniprot.org/uniprotkb/Q9WVP9" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9WVP9", "url": "https://www.uniprot.org/uniprotkb/Q9WVP9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": 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"https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P43021", "url": "https://www.uniprot.org/uniprotkb/P43021" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P43021", 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"prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALVNFTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q05793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05793#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1116", "end_pos": "1116", "site_lbl": "Gly1116", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NTG->NTS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247020", "evidence": [ { "id": "rs27576902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27576902" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SSS->NSS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238239", "evidence": [ { "id": "rs3388724310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724310" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "840", "end_pos": "840", "site_lbl": "Asp840", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DAC->NAC); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137244558", "evidence": [ { "id": "rs3388708965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708965" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1022", "end_pos": "1022", "site_lbl": "Ala1022", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246288", "evidence": [ { "id": "rs3388726903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726903" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Gln1027", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246302", "evidence": [ { "id": "rs3388724275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724275" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Ala1063", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246501", "evidence": [ { "id": "rs217265499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217265499" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1076", "end_pos": "1076", "site_lbl": "His1076", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246539", "evidence": [ { "id": "rs3388715631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715631" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1104", "end_pos": "1104", "site_lbl": "Gly1104", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246985", "evidence": [ { "id": "rs246743285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246743285" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1106", "end_pos": "1106", "site_lbl": "Ser1106", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137246990", "evidence": [ { "id": "rs3388715657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715657" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Glu110", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235197", "evidence": [ { "id": "rs3388726906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726906" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Arg1121", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247036", "evidence": [ { "id": "rs3542938823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542938823" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Leu1151", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247230", "evidence": [ { "id": "rs3388716656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716656" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Cys1159", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247254", "evidence": [ { "id": "rs3388726878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726878" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1186", "end_pos": "1186", "site_lbl": "Ser1186", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247426", "evidence": [ { "id": "rs3388715659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715659" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1197", "end_pos": "1197", "site_lbl": "Asp1197", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247458", "evidence": [ { "id": "rs3388721872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721872" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1228", "end_pos": "1228", "site_lbl": "Thr1228", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247847", "evidence": [ { "id": "rs3388720701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720701" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1231", "end_pos": "1231", "site_lbl": "His1231", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137247855", "evidence": [ { "id": "rs3542921109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542921109" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1270", "end_pos": "1270", "site_lbl": "Pro1270", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249064", "evidence": [ { "id": "rs3388721834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721834" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1280", "end_pos": "1280", "site_lbl": "His1280", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249095", "evidence": [ { "id": "rs3388717009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717009" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1340", "end_pos": "1340", "site_lbl": "Ser1340", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249474", "evidence": [ { "id": "rs3388699936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388699936" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Ala1357", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249809", "evidence": [ { "id": "rs259249050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259249050" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1364", "end_pos": "1364", "site_lbl": "Asn1364", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249832", "evidence": [ { "id": "rs3388720737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720737" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1373", "end_pos": "1373", "site_lbl": "Val1373", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249858", "evidence": [ { "id": "rs3388724597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724597" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Gln1404", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137249950", "evidence": [ { "id": "rs3388716655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716655" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1424", "end_pos": "1424", "site_lbl": "Gly1424", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256165", "evidence": [ { "id": "rs3413053169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413053169" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1451", "end_pos": "1451", "site_lbl": "Leu1451", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256511", "evidence": [ { "id": "rs3388721837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721837" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1452", "end_pos": "1452", "site_lbl": "Gln1452", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256514", "evidence": [ { "id": "rs3388720713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720713" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1475", "end_pos": "1475", "site_lbl": "Pro1475", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256681", "evidence": [ { "id": "rs5526867317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526867317" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Ala1504", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256768", "evidence": [ { "id": "rs3388729260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729260" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1505", "end_pos": "1505", "site_lbl": "Ser1505", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256773", "evidence": [ { "id": "rs3388719377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719377" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1510", "end_pos": "1510", "site_lbl": "Ser1510", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256787", "evidence": [ { "id": "rs3388709002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388709002" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1520", "end_pos": "1520", "site_lbl": "Ser1520", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256817", "evidence": [ { "id": "rs3388716626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716626" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1537", "end_pos": "1537", "site_lbl": "Val1537", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137256867", "evidence": [ { "id": "rs3388723058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723058" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1546", "end_pos": "1546", "site_lbl": "Pro1546", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137258944", "evidence": [ { "id": "rs3388729320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729320" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1549", "end_pos": "1549", "site_lbl": "Thr1549", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137258954", "evidence": [ { "id": "rs3388724323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724323" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1561", "end_pos": "1561", "site_lbl": "Glu1561", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137258991", "evidence": [ { "id": "rs3388711408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711408" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1570", "end_pos": "1570", "site_lbl": "Asp1570", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137259018", "evidence": [ { "id": "rs253983275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253983275" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1574", "end_pos": "1574", "site_lbl": "Pro1574", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137259029", "evidence": [ { "id": "rs3388720717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720717" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1583", "end_pos": "1583", "site_lbl": "Gln1583", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137260749", "evidence": [ { "id": "rs3388716681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716681" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1607", "end_pos": "1607", "site_lbl": "Pro1607", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137260822", "evidence": [ { "id": "rs3388699973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388699973" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1620", "end_pos": "1620", "site_lbl": "Pro1620", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137260860", "evidence": [ { "id": "rs3413087363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413087363" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Glu163", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235688", "evidence": [ { "id": "rs249640830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249640830" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1651", "end_pos": "1651", "site_lbl": "Glu1651", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137261060", "evidence": [ { "id": "rs3388716996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716996" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1665", "end_pos": "1665", "site_lbl": "Gly1665", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262472", "evidence": [ { "id": "rs3388716665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716665" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1666", "end_pos": "1666", "site_lbl": "Gly1666", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262475", "evidence": [ { "id": "rs3395000167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395000167" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1673", "end_pos": "1673", "site_lbl": "Lys1673", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262654", "evidence": [ { "id": "rs3394971550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394971550" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1677", "end_pos": "1677", "site_lbl": "Glu1677", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262668", "evidence": [ { "id": "rs250549994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250549994" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235701", "evidence": [ { "id": "rs3388723022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723022" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1688", "end_pos": "1688", "site_lbl": "Pro1688", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262700", "evidence": [ { "id": "rs3388723025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723025" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1689", "end_pos": "1689", "site_lbl": "Gln1689", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262702", "evidence": [ { "id": "rs3388719305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719305" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137252422", "evidence": [ { "id": "rs238833758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238833758" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1721", "end_pos": "1721", "site_lbl": "Ala1721", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262798", "evidence": [ { "id": "rs5526904838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526904838" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1739", "end_pos": "1739", "site_lbl": "Asp1739", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137262966", "evidence": [ { "id": "rs3388717081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717081" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1750", "end_pos": "1750", "site_lbl": "Leu1750", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137263000", "evidence": [ { "id": "rs3388715639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715639" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Ile1770", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137265514", "evidence": [ { "id": "rs27576816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27576816" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1803", "end_pos": "1803", "site_lbl": "Leu1803", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137265697", "evidence": [ { "id": "rs3388711412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711412" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1857", "end_pos": "1857", "site_lbl": "Gln1857", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137265859", "evidence": [ { "id": "rs3388708999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708999" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1866", "end_pos": "1866", "site_lbl": "Val1866", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266436", "evidence": [ { "id": "rs3388724576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724576" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1870", "end_pos": "1870", "site_lbl": "His1870", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266449", "evidence": [ { "id": "rs3388720681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720681" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1886", "end_pos": "1886", "site_lbl": "Cys1886", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266496", "evidence": [ { "id": "rs3388724603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724603" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1888", "end_pos": "1888", "site_lbl": "Ala1888", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266502", "evidence": [ { "id": "rs3388724331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724331" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Gly190", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235769", "evidence": [ { "id": "rs3394952000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394952000" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Thr191", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137235772", "evidence": [ { "id": "rs3394952009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394952009" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1921", "end_pos": "1921", "site_lbl": "Ala1921", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266675", "evidence": [ { "id": "rs217052225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217052225" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1939", "end_pos": "1939", "site_lbl": "Gly1939", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266728", "evidence": [ { "id": "rs3388729324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729324" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1955", "end_pos": "1955", "site_lbl": "Pro1955", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266859", "evidence": [ { "id": "rs3388723441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723441" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1975", "end_pos": "1975", "site_lbl": "Tyr1975", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266921", "evidence": [ { "id": "rs3388719343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719343" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1981", "end_pos": "1981", "site_lbl": "Val1981", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266937", "evidence": [ { "id": "rs3388716635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716635" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "1984", "end_pos": "1984", "site_lbl": "Ala1984", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137266947", "evidence": [ { "id": "rs3388720686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720686" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2032", "end_pos": "2032", "site_lbl": "Thr2032", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137267382", "evidence": [ { "id": "rs3394971535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394971535" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2181", "end_pos": "2181", "site_lbl": "Thr2181", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137268823", "evidence": [ { "id": "rs3388717030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717030" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137268824", "evidence": [ { "id": "rs3388720741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720741" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2231", "end_pos": "2231", "site_lbl": "Thr2231", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269061", "evidence": [ { "id": "rs3388726897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726897" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2296", "end_pos": "2296", "site_lbl": "Ser2296", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269857", "evidence": [ { "id": "rs3542912474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542912474" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2306", "end_pos": "2306", "site_lbl": "Ala2306", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269868", "evidence": [ { "id": "rs228400219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228400219" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2323", "end_pos": "2323", "site_lbl": "His2323", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137269939", "evidence": [ { "id": "rs215399322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215399322" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2449", "end_pos": "2449", "site_lbl": "Gly2449", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137271209", "evidence": [ { "id": "rs213864811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213864811" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2468", "end_pos": "2468", "site_lbl": "Trp2468", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137271266", "evidence": [ { "id": "rs3395000156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395000156" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2630", "end_pos": "2630", "site_lbl": "Ser2630", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137272868", "evidence": [ { "id": "rs3388708923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708923" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2663", "end_pos": "2663", "site_lbl": "Lys2663", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137272949", "evidence": [ { "id": "rs3388729256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729256" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Thr269", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238320", "evidence": [ { "id": "rs5526904544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526904544" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2751", "end_pos": "2751", "site_lbl": "His2751", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137275426", "evidence": [ { "id": "rs3543011026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543011026" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137275424", "evidence": [ { "id": "rs3543010973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543010973" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2772", "end_pos": "2772", "site_lbl": "Leu2772", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137275678", "evidence": [ { "id": "rs3388715677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715677" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "2844", "end_pos": "2844", "site_lbl": "Ser2844", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137276912", "evidence": [ { "id": "rs27576768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27576768" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Arg300", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238413", "evidence": [ { "id": "rs5526789427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526789427" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "3097", "end_pos": "3097", "site_lbl": "Val3097", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137279232", "evidence": [ { "id": "rs3388711385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711385" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Leu317", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238464", "evidence": [ { "id": "rs3388726858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388726858" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Glu329", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238583", "evidence": [ { "id": "rs3388700006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388700006" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Phe330", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238586", "evidence": [ { "id": "rs3388724569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724569" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Leu339", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137238613", "evidence": [ { "id": "rs3388719387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388719387" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "3499", "end_pos": "3499", "site_lbl": "Gly3499", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137284538", "evidence": [ { "id": "rs3542867993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542867993" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Val361", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239155", "evidence": [ { "id": "rs214011505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214011505" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Pro364", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239165", "evidence": [ { "id": "rs3388720738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720738" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239165", "evidence": [ { "id": "rs3388720738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720738" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asp389", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239239", "evidence": [ { "id": "rs3388699935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388699935" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Cys394", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239254", "evidence": [ { "id": "rs3388724278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724278" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Gln413", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239442", "evidence": [ { "id": "rs3388711363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711363" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Val433", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239500", "evidence": [ { "id": "rs3388721906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721906" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Asn439", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239518", "evidence": [ { "id": "rs3388716678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716678" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Gly462", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239679", "evidence": [ { "id": "rs3395071189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395071189" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Glu480", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137239732", "evidence": [ { "id": "rs3388721914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721914" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Pro547", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137240073", "evidence": [ { "id": "rs221166295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221166295" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Leu585", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242021", "evidence": [ { "id": "rs3388721916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721916" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Asp608", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242609", "evidence": [ { "id": "rs3388724600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724600" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Ser609", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242611", "evidence": [ { "id": "rs3388716598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716598" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Val635", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242690", "evidence": [ { "id": "rs3388723015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388723015" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Arg643", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242713", "evidence": [ { "id": "rs3388721841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721841" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Gln663", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242775", "evidence": [ { "id": "rs3388724614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724614" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242780", "evidence": [ { "id": "rs3388724562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388724562" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Glu666", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242782", "evidence": [ { "id": "rs3388720771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720771" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "668", "end_pos": "668", "site_lbl": "His668", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242874", "evidence": [ { "id": "rs3507761914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507761914" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Gln695", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242954", "evidence": [ { "id": "rs3388729291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388729291" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ile710", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "137242999", "evidence": [ { "id": "rs3388715644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388715644" } ] } ] }, { "uniprot_canonical_ac": "Q05793-1", "start_pos": "75", "end_pos": "75", 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"name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050847" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the 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"disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060181", "name": "ischemic colitis", "description": "A colitis caused_by inadequate blood supply to the colon.", "url": "https://disease-ontology.org/term/DOID:0060181", "evidence": [ { "id": "0060181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060181" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:0111046", "name": "platelet-type bleeding disorder 10", "description": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0111046", "evidence": [ { "id": "0111046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111046" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and 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intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "dentinogenesis", "id": "GO:0097187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097187", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "positive regulation of odontoblast differentiation", "id": "GO:1901331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901331", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "positive regulation of leukotriene production involved in inflammatory response", "id": "GO:0035491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035491", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "negative regulation of vascular wound healing", "id": "GO:0061044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061044", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprotkb/P22777" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P22777", "url": 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"name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "regulation of norepinephrine secretion", "id": "GO:0014061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014061", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P30557", "url": "https://www.uniprot.org/uniprotkb/P30557" } ], "pmid": "" }, { "name": "positive regulation of neutrophil extravasation", "id": "GO:2000391", "url": 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr333", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "P57722", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P57722" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P57722-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asn349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70696MD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QITITGTPANISLAQYLINAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 349, "start_aa": "Asn", "end_pos": 349, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn349", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "P70453-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 456, "chemical_mass": 52486.0, "gene_names": "Pde7a;Pde7a", "protein_name": "High affinity 3',5'-cyclic-AMP phosphodiesterase 7A", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004112", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "P70453", "url": "https://www.uniprot.org/uniprotkb/P70453" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.3" }, { "uniprot_canonical_ac": "Q02242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 288, "chemical_mass": 31842.0, "gene_names": "Pdcd1;Ly101;PD-1;Pd1;Pdc1;Pdcd1", "protein_name": "Programmed cell death protein 1", "disease": [ { "disease_id": "DOID:0061163", "name": "infantile onset multisystem autoimmune disease 4", "description": "An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061163", "evidence": [ { "id": "0061163", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061163" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "adaptive immune response", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140318", "evidence": [ { "database": "UniProtKB", "id": "Q5BL07", "url": "https://www.uniprot.org/uniprotkb/Q5BL07" } ], "pmid": "" } ], "biological_process": [ { "name": "protein unfolding", "id": "GO:0043335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043335", "evidence": [ { "database": "UniProtKB", "id": "Q5BL07", "url": "https://www.uniprot.org/uniprotkb/Q5BL07" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "Q5BL07", "url": "https://www.uniprot.org/uniprotkb/Q5BL07" } ], "pmid": "" }, { "name": "protein targeting to peroxisome", "id": "GO:0006625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006625", "evidence": [ { "database": "UniProtKB", "id": "Q5BL07", "url": "https://www.uniprot.org/uniprotkb/Q5BL07" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix", "id": "GO:0016558", "url": 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"name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": 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"name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of skeletal muscle satellite cell proliferation", "id": "GO:0014842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014842", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "mesonephric tubule formation", "id": "GO:0072172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072172", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "cellular response to 3,3',5-triiodo-L-thyronine", "id": "GO:1905243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905243", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "facial nerve morphogenesis", "id": "GO:0021610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021610", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": 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"" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" } ], "biological_process": [ { "name": "biotin metabolic process", "id": "GO:0006768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006768", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "Q9CZG9", "url": "https://www.uniprot.org/uniprotkb/Q9CZG9" } ], "pmid": "" }, { 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[ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": 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"" } ], "biological_process": [ { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900747", "evidence": [ { "database": "UniProtKB", "id": "P28654", "url": "https://www.uniprot.org/uniprotkb/P28654" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial depolarization", "id": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801218" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Pro437", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137019881", "evidence": [ { "id": "rs3388800299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388800299" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137020452", "evidence": [ { "id": "rs3388801217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801217" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Met587", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137022130", "evidence": [ { "id": "rs3388802505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802505" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Arg597", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137022160", "evidence": [ { "id": "rs3388801181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801181" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ala604", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023010", "evidence": [ { "id": "rs3388794142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388794142" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Gln625", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023072", "evidence": [ { "id": "rs3388802471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802471" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Thr632", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023094", "evidence": [ { "id": "rs3388784831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388784831" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Thr647", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137023139", "evidence": [ { "id": "rs3388801442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801442" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Val69", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137017057", "evidence": [ { "id": "rs3388784877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388784877" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Asp700", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "137024989", "evidence": [ { "id": "rs3388802467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388802467" } ] } ] }, { "uniprot_canonical_ac": "Q9R0E1-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Asp672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of lysyl hydroxylase activity. No effect on glycosyltransferase activity. Mutant mice are born at the expected Mendelian rate and have no visible phenotype, excepting decreased hydroxylysine modifications in type IV collagens in the skin.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0E1", "url": "https://www.uniprot.org/uniprotkb/Q9R0E1" }, { "database": "PubMed", "id": "16467571", "url": "https://glygen.org/publication/PubMed/16467571" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P11247-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 718, "chemical_mass": 81182.0, "gene_names": "Mpo;Mpo;mKIAA4033", "protein_name": "Myeloperoxidase", "disease": [ { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080348", "name": "Alzheimer's disease 1", "description": "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.", "url": "https://disease-ontology.org/term/DOID:0080348", "evidence": [ { "id": "0080348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080348" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9362", "name": "status asthmaticus", "description": "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.", "url": "https://disease-ontology.org/term/DOID:9362", "evidence": [ { "id": "9362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9362" } ], "weight": 0.0 } ], "biological_process": [ { "name": "neutrophil-mediated killing of fungus", "id": "GO:0070947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070947", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "low-density lipoprotein particle remodeling", "id": "GO:0034374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034374", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": 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"sequence_org": "R", "sequence_mut": "T*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763376_31763377ins", "evidence": [ { "id": "rs3389417967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389417967" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Phe147", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763382", "evidence": [ { "id": "rs3389427482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389427482" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Leu155", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763407", "evidence": [ { "id": "rs3389417991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389417991" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763407", "evidence": [ { "id": "rs3389417991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389417991" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Thr172", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763457", "evidence": [ { "id": "rs244535897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244535897" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Lys174", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763465", "evidence": [ { "id": "rs3389408402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408402" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Gly179", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763478", "evidence": [ { "id": "rs3389408769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408769" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763514", "evidence": [ { "id": "rs213625865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213625865" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Phe201", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763544", "evidence": [ { "id": "rs3389372476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389372476" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Leu211", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763575", "evidence": [ { "id": "rs3389403769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389403769" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Arg216", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763590", "evidence": [ { "id": "rs6260247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6260247" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763595", "evidence": [ { "id": "rs3389403757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389403757" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Leu220", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763601", "evidence": [ { "id": "rs252166894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252166894" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Val232", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": 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"weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763923", "evidence": [ { "id": "rs3389414987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414987" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Arg332", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "31763937", "evidence": [ { "id": "rs218214110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218214110" } ] } ] }, { "uniprot_canonical_ac": "Q8BTP0-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Leu352", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline 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"78748544", "evidence": [ { "id": "rs224543094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224543094" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ala111", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734475", "evidence": [ { "id": "rs3388919772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919772" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1123", "end_pos": "1123", "site_lbl": "Gly1123", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748598", "evidence": [ { "id": "rs3388920112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920112" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1125", "end_pos": "1125", "site_lbl": "Glu1125", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748603", "evidence": [ { "id": "rs3388916371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916371" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1128", "end_pos": "1128", "site_lbl": "Ser1128", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748613", "evidence": [ { "id": "rs3388906701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906701" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1130", "end_pos": "1130", "site_lbl": "Leu1130", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748618", "evidence": [ { "id": "rs3388906764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906764" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Glu1135", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748635", "evidence": [ { "id": "rs37527706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37527706" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Thr1139", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748646", "evidence": [ { "id": "rs243220994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243220994" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1140", "end_pos": "1140", "site_lbl": "Ser1140", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748649", "evidence": [ { "id": "rs3388916392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916392" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Pro1149", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748676", "evidence": [ { "id": "rs36710345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36710345" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734484", "evidence": [ { "id": "rs3388920051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920051" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Thr1151", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748681", "evidence": [ { "id": "rs255978889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255978889" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1178", "end_pos": "1178", "site_lbl": "Val1178", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748763", "evidence": [ { "id": "rs215585746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215585746" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Glu1240", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748948", "evidence": [ { "id": "rs3388916594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916594" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1241", "end_pos": "1241", "site_lbl": "Val1241", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748952", "evidence": [ { "id": "rs32400885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32400885" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1242", "end_pos": "1242", "site_lbl": "Asn1242", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78748955", "evidence": [ { "id": "rs31327907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31327907" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Arg124", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734515", "evidence": [ { "id": "rs3388920056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920056" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "Ile1257", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749000", "evidence": [ { "id": "rs229931309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229931309" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1286", "end_pos": "1286", "site_lbl": "Val1286", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749086", "evidence": [ { "id": "rs3388919736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919736" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749086", "evidence": [ { "id": "rs3388919736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919736" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1293", "end_pos": "1293", "site_lbl": "Thr1293", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749108", "evidence": [ { "id": "rs3398131324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398131324" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1308", "end_pos": "1308", "site_lbl": "Ser1308", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749152", "evidence": [ { "id": "rs37180682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37180682" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749152", "evidence": [ { "id": "rs37180682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37180682" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1316", "end_pos": "1316", "site_lbl": "Leu1316", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749176", "evidence": [ { "id": "rs3388923229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923229" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1323", "end_pos": "1323", "site_lbl": "Ala1323", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749198", "evidence": [ { "id": "rs37664302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37664302" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1344", "end_pos": "1344", "site_lbl": "Ser1344", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749261", "evidence": [ { "id": "rs32439390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32439390" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1345", "end_pos": "1345", "site_lbl": "Ser1345", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749265", "evidence": [ { "id": "rs38835844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38835844" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1347", "end_pos": "1347", "site_lbl": "Glu1347", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749270", "evidence": [ { "id": "rs3388898535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898535" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Asp1353", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749287", "evidence": [ { "id": "rs261453014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261453014" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1364", "end_pos": "1364", "site_lbl": "Val1364", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749320", "evidence": [ { "id": "rs224576375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224576375" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Glu1367", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749330", "evidence": [ { "id": "rs238445469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238445469" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1371", "end_pos": "1371", "site_lbl": "Ile1371", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749342", "evidence": [ { "id": "rs3388920259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920259" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1387", "end_pos": "1387", "site_lbl": "Thr1387", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749390", "evidence": [ { "id": "rs5528145751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528145751" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1391", "end_pos": "1391", "site_lbl": "Thr1391", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749401", "evidence": [ { "id": "rs261793823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261793823" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1397", "end_pos": "1397", "site_lbl": "Ser1397", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749419", "evidence": [ { "id": "rs3398304755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398304755" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749419", "evidence": [ { "id": "rs3398304755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398304755" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Glu140", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734563", "evidence": [ { "id": "rs3388898443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898443" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1462", "end_pos": "1462", "site_lbl": "Gly1462", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749615", "evidence": [ { "id": "rs3388923311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923311" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ile149", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734591", "evidence": [ { "id": "rs5528131549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528131549" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1514", "end_pos": "1514", "site_lbl": "Glu1514", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749771", "evidence": [ { "id": "rs32085027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32085027" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1559", "end_pos": "1559", "site_lbl": "Ala1559", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749906", "evidence": [ { "id": "rs46312921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46312921" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1587", "end_pos": "1587", "site_lbl": "Pro1587", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78749989", "evidence": [ { "id": "rs3388916351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916351" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1626", "end_pos": "1626", "site_lbl": "Gln1626", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750106", "evidence": [ { "id": "rs3388917718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917718" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1632", "end_pos": "1632", "site_lbl": "Thr1632", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750124", "evidence": [ { "id": "rs255575237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255575237" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Tyr164", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78736046", "evidence": [ { "id": "rs3388892088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388892088" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1651", "end_pos": "1651", "site_lbl": "Asp1651", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750181", "evidence": [ { "id": "rs3388898494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898494" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1662", "end_pos": "1662", "site_lbl": "Gly1662", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750215", "evidence": [ { "id": "rs218393036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218393036" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1664", "end_pos": "1664", "site_lbl": "Gly1664", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750220", "evidence": [ { "id": "rs3388919761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919761" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1696", "end_pos": "1696", "site_lbl": "Pro1696", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750316", "evidence": [ { "id": "rs3388920040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920040" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1700", "end_pos": "1700", "site_lbl": "Tyr1700", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750328", "evidence": [ { "id": "rs36891928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36891928" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1703", "end_pos": "1703", "site_lbl": "Arg1703", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750338", "evidence": [ { "id": "rs47696513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47696513" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1708", "end_pos": "1708", "site_lbl": "Ser1708", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750353", "evidence": [ { "id": "rs3398198814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398198814" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1711", "end_pos": "1711", "site_lbl": "Ala1711", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750361", "evidence": [ { "id": "rs48938013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48938013" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1714", "end_pos": "1714", "site_lbl": "Ser1714", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750370", "evidence": [ { "id": "rs3398198828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398198828" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1722", "end_pos": "1722", "site_lbl": "Thr1722", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750394", "evidence": [ { "id": "rs3388916357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916357" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1727", "end_pos": "1727", "site_lbl": "Ser1727", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750409", "evidence": [ { "id": "rs3398124653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398124653" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1729", "end_pos": "1729", "site_lbl": "Ile1729", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750415", "evidence": [ { "id": "rs48571987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48571987" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1739", "end_pos": "1739", "site_lbl": "Asp1739", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750446", "evidence": [ { "id": "rs3388920047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920047" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1746", "end_pos": "1746", "site_lbl": "Ala1746", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750467", "evidence": [ { "id": "rs3397751156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397751156" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1747", "end_pos": "1747", "site_lbl": "Gly1747", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750470", "evidence": [ { "id": "rs3388920231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920231" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1751", "end_pos": "1751", "site_lbl": "Ser1751", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750481", "evidence": [ { "id": "rs3388919821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919821" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1769", "end_pos": "1769", "site_lbl": "Ile1769", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750535", "evidence": [ { "id": "rs3388898516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898516" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Leu176", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78736081", "evidence": [ { "id": "rs3388916549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916549" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1780", "end_pos": "1780", "site_lbl": "Met1780", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750568", "evidence": [ { "id": "rs3398124701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398124701" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1795", "end_pos": "1795", "site_lbl": "Gln1795", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750614", "evidence": [ { "id": "rs223364862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223364862" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Asp1816", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750676", "evidence": [ { "id": "rs45904480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45904480" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1846", "end_pos": "1846", "site_lbl": "Thr1846", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750767", "evidence": [ { "id": "rs3388916553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916553" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1850", "end_pos": "1850", "site_lbl": "Asn1850", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750778", "evidence": [ { "id": "rs36349467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36349467" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1868", "end_pos": "1868", "site_lbl": "Tyr1868", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750832", "evidence": [ { "id": "rs36376581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36376581" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1885", "end_pos": "1885", "site_lbl": "Gly1885", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750883", "evidence": [ { "id": "rs3388920046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920046" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1938", "end_pos": "1938", "site_lbl": "His1938", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761102", "evidence": [ { "id": "rs32310727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32310727" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1949", "end_pos": "1949", "site_lbl": "Arg1949", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761135", "evidence": [ { "id": "rs265865197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265865197" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1970", "end_pos": "1970", "site_lbl": "Asn1970", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761199", "evidence": [ { "id": "rs3398131340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398131340" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761198", "evidence": [ { "id": "rs3412964498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412964498" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "1973", "end_pos": "1973", "site_lbl": "Ala1973", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761708", "evidence": [ { "id": "rs3388901478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901478" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2000", "end_pos": "2000", "site_lbl": "Phe2000", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762426", "evidence": [ { "id": "rs3388898532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898532" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Val2019", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762482", "evidence": [ { "id": "rs3388922422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388922422" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2038", "end_pos": "2038", "site_lbl": "Leu2038", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762539", "evidence": [ { "id": "rs3397751170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397751170" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2044", "end_pos": "2044", "site_lbl": "Lys2044", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78762557", "evidence": [ { "id": "rs3388913081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388913081" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2064", "end_pos": "2064", "site_lbl": "Lys2064", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763453", "evidence": [ { "id": "rs3388898481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898481" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2074", "end_pos": "2074", "site_lbl": "Val2074", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763483", "evidence": [ { "id": "rs1135266723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135266723" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2100", "end_pos": "2100", "site_lbl": "Glu2100", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763563", "evidence": [ { "id": "rs261187312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261187312" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2102", "end_pos": "2102", "site_lbl": "Arg2102", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763568", "evidence": [ { "id": "rs38286487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38286487" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2106", "end_pos": "2106", "site_lbl": "Thr2106", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763580", "evidence": [ { "id": "rs3388916341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916341" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "2113", "end_pos": "2113", "site_lbl": "His2113", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78763964", "evidence": [ { "id": "rs3388919791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388919791" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asp223", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78737964", "evidence": [ { "id": "rs3388901419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901419" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asp225", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78737969", "evidence": [ { "id": "rs3388916582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916582" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Glu240", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78738016", "evidence": [ { "id": "rs3388911676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911676" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Asp243", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78738025", "evidence": [ { "id": "rs3388898468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898468" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Cys246", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78738033", "evidence": [ { "id": "rs3388917649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917649" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ala269", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78739399", "evidence": [ { "id": "rs3388906736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906736" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ala289", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750361", "evidence": [ { "id": "rs48938013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48938013" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Trp301", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78739496", "evidence": [ { "id": "rs3388892118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388892118" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Asp339", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78739609", "evidence": [ { "id": "rs3388922431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388922431" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ile347", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750535", "evidence": [ { "id": "rs3388898516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898516" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Gln35", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78734247", "evidence": [ { "id": "rs3388911645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911645" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Phe361", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740716", "evidence": [ { "id": "rs3388892083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388892083" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Gly366", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740731", "evidence": [ { "id": "rs3388922380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388922380" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Gln373", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78750614", "evidence": [ { "id": "rs223364862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223364862" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Asp379", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740770", "evidence": [ { "id": "rs3388916571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916571" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Glu381", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740777", "evidence": [ { "id": "rs3398153708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398153708" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ala393", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740812", "evidence": [ { "id": "rs3388898538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898538" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Thr3", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78731949", "evidence": [ { "id": "rs3388920240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920240" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Pro409", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740860", "evidence": [ { "id": "rs3388920088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920088" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ile411", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740866", "evidence": [ { "id": "rs5528077053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528077053" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Gly415", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740879", "evidence": [ { "id": "rs3388920211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920211" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Arg435", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740939", "evidence": [ { "id": "rs3388920082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920082" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ala439", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740950", "evidence": [ { "id": "rs3546069404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546069404" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Pro446", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78740971", "evidence": [ { "id": "rs3398124649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398124649" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Phe459", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741011", "evidence": [ { "id": "rs4226711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4226711" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Gln480", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741073", "evidence": [ { "id": "rs3398304052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398304052" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Pro481", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741077", "evidence": [ { "id": "rs3397739588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397739588" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Arg482", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741079", "evidence": [ { "id": "rs3398203890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398203890" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741080", "evidence": [ { "id": "rs4226710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4226710" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Leu483", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741083", "evidence": [ { "id": "rs3397989205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397989205" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Gly485", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78741088", "evidence": [ { "id": "rs3388916079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388916079" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Gln506", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742120", "evidence": [ { "id": "rs3388917639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917639" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "511", "end_pos": "511", "site_lbl": "His511", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742135", "evidence": [ { "id": "rs217178391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217178391" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Val515", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742147", "evidence": [ { "id": "rs36705409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36705409" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Arg565", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78761135", "evidence": [ { "id": "rs265865197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265865197" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Tyr567", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742496", "evidence": [ { "id": "rs3388923241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923241" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Tyr581", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78742537", "evidence": [ { "id": "rs3388920272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920272" } ] } ] }, { "uniprot_canonical_ac": "Q61282-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Glu596", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "7", "chr_pos": "78743756", "evidence": [ { "id": "rs230646548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230646548" } ] } ] }, { 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[10090]" } ], "length": 1089, "chemical_mass": 122683.0, "gene_names": "Pdgfra;CD140a;Pdgfr-2;Pdgfra", "protein_name": "Platelet-derived growth factor receptor alpha", "disease": [ { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.", "url": "https://disease-ontology.org/term/DOID:0050902", "evidence": [ { "id": "0050902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050902" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial 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"4297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4297" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:8549", "name": "chronic ulcer of skin", "description": "", "url": "https://disease-ontology.org/term/DOID:8549", "evidence": [ { "id": "8549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8549" } ], "weight": 0.0 }, { "disease_id": "DOID:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8683" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:999", "name": "hypereosinophilic syndrome", "description": "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.", "url": "https://disease-ontology.org/term/DOID:999", "evidence": [ { "id": "999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:999" } ], "weight": 0.0 } ], "biological_process": [ { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "P26618", "url": "https://www.uniprot.org/uniprotkb/P26618" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing 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No effect on ubiquitination of histone H3.", "evidence": [ { "database": "UniProtKB", "id": "Q9DAG9", "url": "https://www.uniprot.org/uniprotkb/Q9DAG9" }, { "database": "PubMed", "id": "37993255", "url": "https://glygen.org/publication/PubMed/37993255" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9DCE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": "https://www.uniprot.org/uniprotkb/Q9DCE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 382, "chemical_mass": 42116.0, "gene_names": "Pak1ip1;5830431I15Rik;5930415H02Rik;Gdpd1;PIP1;Pak1ip1", "protein_name": "p21-activated protein kinase-interacting protein 1", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9DCE5", "url": 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"database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WV95-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Lys27", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs the ability to resucue growth in cdc25ts mutant yeasts.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" }, { "database": "PubMed", "id": "12374806", "url": "https://glygen.org/publication/PubMed/12374806" } ] } ] }, { "uniprot_canonical_ac": "Q9WV95-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Arg28", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Impairs the ability to resucue growth in cdc25ts mutant yeasts.", "evidence": [ { "database": "UniProtKB", "id": "Q9WV95", "url": "https://www.uniprot.org/uniprotkb/Q9WV95" }, { "database": "PubMed", "id": "12374806", "url": "https://glygen.org/publication/PubMed/12374806" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9WVQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1022, "chemical_mass": 119401.0, "gene_names": "Pmfbp1;1700016D22Rik;F77;Pmfbp1;Stap", "protein_name": "Polyamine-modulated factor 1-binding protein 1", "disease": [ { "disease_id": 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], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ0", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ0" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 559, "chemical_mass": 61140.0, "gene_names": "Phf1;D17Ertd455e;Pcl1;Phf1;Phf2;Plc1;Tctex-3;Tctex3", "protein_name": "PHD finger protein 1", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "identical protein binding", "id": 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"evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "ESC/E(Z) complex", "id": "GO:0035098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035098", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1B8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1B8" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q8BFX1", "url": "https://www.uniprot.org/uniprotkb/Q8BFX1" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "Q9DAK3", "url": "https://www.uniprot.org/uniprotkb/Q9DAK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P83882-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P83882", "url": "https://www.uniprot.org/uniprotkb/P83882" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 106, "chemical_mass": 12441.0, "gene_names": "Rpl36a;L44L;Rpl36a;Rpl44", "protein_name": "Large ribosomal subunit protein eL42", "disease": [], "biological_process": [ { "name": "negative regulation of myoblast fusion", "id": "GO:1901740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901740", "evidence": [ { "database": "UniProtKB", "id": "P83882", "url": "https://www.uniprot.org/uniprotkb/P83882" } ], "pmid": "" 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"P83882", "url": "https://www.uniprot.org/uniprotkb/P83882" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P83882", "url": "https://www.uniprot.org/uniprotkb/P83882" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P83882", "url": "https://www.uniprot.org/uniprotkb/P83882" } ], "pmid": "" }, { "name": "cytosolic large ribosomal subunit", "id": "GO:0022625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022625", "evidence": [ { "database": "UniProtKB", "id": "P83882", "url": "https://www.uniprot.org/uniprotkb/P83882" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P83882", "url": 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"length": 270, "chemical_mass": 29440.0, "gene_names": "Rpa2;RPA34;Rf-A2;Rpa2;Rpa34", "protein_name": "Replication protein A 32 kDa subunit", "disease": [], "molecular_function": [ { "name": "G-rich strand telomeric DNA binding", "id": "GO:0098505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098505", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "telomeric DNA binding", "id": "GO:0042162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042162", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA damage checkpoint", "id": "GO:2000001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000001", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q62193", "url": "https://www.uniprot.org/uniprotkb/Q62193" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": 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Binding of P-selectin completely abolished; when associated with Y-54; A-55 and A-58.", "evidence": [ { "database": "UniProtKB", "id": "Q62170", "url": "https://www.uniprot.org/uniprotkb/Q62170" }, { "database": "PubMed", "id": "12393631", "url": "https://glygen.org/publication/PubMed/12393631" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9ESL0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 520, "chemical_mass": 56592.0, "gene_names": "Oxct2b;Oxct2b;Scot-t2", "protein_name": "Succinyl-CoA:3-ketoacid coenzyme A transferase 2B, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "pmid": "" } ], "biological_process": [ { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "pmid": "" }, { "name": "ketone body catabolic process", "id": "GO:0046952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046952", "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "pmid": "" }, { "name": "ketone body metabolic process", "id": "GO:1902224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902224", "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "pmid": "" } ], "molecular_function": [ { "name": "succinyl-CoA:3-oxo-acid CoA-transferase activity", "id": "GO:0008260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008260", "evidence": [ { "database": "UniProtKB", "id": "Q9ESL0", "url": "https://www.uniprot.org/uniprotkb/Q9ESL0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9JKV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 230, "chemical_mass": 25342.0, "gene_names": "Scamp4;2410022D05Rik;Sc4;Scamp4", "protein_name": "Secretory carrier-associated membrane protein 4", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKV5-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Thr194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JKV5", "url": "https://www.uniprot.org/uniprotkb/Q9JKV5" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8BGD6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 560, "chemical_mass": 63392.0, "gene_names": "Slc38a9;4833412L08Rik;6720411P22Rik;9130023D20Rik;9430067K09Rik;A730092C09;Slc38a9", "protein_name": "Neutral amino acid transporter 9", "disease": [], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "glutamine transport", "id": "GO:0006868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006868", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "asparagine transport", "id": "GO:0006867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006867", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "L-arginine transmembrane transport", "id": "GO:1903826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903826", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "L-glutamine transmembrane transporter activity", "id": "GO:0015186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015186", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "arginine binding", "id": "GO:0034618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034618", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "L-asparagine transmembrane transporter activity", "id": "GO:0015182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015182", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "L-leucine transmembrane transporter activity", "id": "GO:0015190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015190", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "L-arginine transmembrane transporter activity", "id": "GO:0061459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061459", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "sterol sensor activity", "id": "GO:0032935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032935", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": 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238, "start_aa": "Asn", "end_pos": 238, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn238", "evidence": [ { "id": "Q8BGD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q8BGD6-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Asn247", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 247, "start_aa": "Asn", "end_pos": 247, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn247", "evidence": [ { "id": "Q8BGD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6#ptm_processing" }, { "id": "PRU00498", "database": 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"subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 273, "start_aa": "Asn", "end_pos": 273, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn273", "evidence": [ { "id": "Q8BGD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q8BGD6-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD6", "url": "https://www.uniprot.org/uniprotkb/Q8BGD6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8BGD6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGD6" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q5HZI9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5HZI9", "url": "https://www.uniprot.org/uniprotkb/Q5HZI9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 298, "chemical_mass": 33689.0, "gene_names": "Slc25a51;9130208E07Rik;D130005A03Rik;Gm138;Mcart1;Slc25a51", "protein_name": "Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5HZI9", "url": "https://www.uniprot.org/uniprotkb/Q5HZI9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U11/U12 snRNP", "id": "GO:0034693", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "spliceosomal tri-snRNP complex", "id": "GO:0097526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097526", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U7 snRNP", "id": "GO:0005683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005683", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U12-type precatalytic spliceosome", "id": "GO:0071016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071016", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P62309", "url": "https://www.uniprot.org/uniprotkb/P62309" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P63163-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 240, "chemical_mass": 24614.0, "gene_names": "Snrpn;2410045I01Rik;HCERN3;Peg4;SMN;Smn;Snrpn;sm-D;snRNP-N", "protein_name": "Small nuclear ribonucleoprotein-associated protein N", "disease": [ { "disease_id": "DOID:11983", "name": "Prader-Willi syndrome", "description": "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. 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snRNP", "id": "GO:0005682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005682", "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "pmid": "" }, { "name": "U2-type prespliceosome", "id": "GO:0071004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071004", "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "pmid": "" }, { "name": "snRNP binding", "id": "GO:0070990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070990", "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P63163", "url": "https://www.uniprot.org/uniprotkb/P63163" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q0VGM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0VGM9", "url": "https://www.uniprot.org/uniprotkb/Q0VGM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1203, "chemical_mass": 133767.0, "gene_names": "Rtel1;Kiaa1088;Rtel1;Rtel", "protein_name": "Regulator of telomere elongation helicase 1", "disease": [ { "disease_id": "DOID:0050671", "name": "female breast cancer", "description": "A breast cancer that develops from breast tissue in females.", "url": "https://disease-ontology.org/term/DOID:0050671", "evidence": [ { "id": "0050671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050671" } ], "weight": 0.0 }, { "disease_id": "DOID:0070022", "name": "autosomal recessive dyskeratosis congenita 5", "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.", "url": "https://disease-ontology.org/term/DOID:0070022", "evidence": [ { "id": "0070022", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070022" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:5076", "name": "mixed glioma", "description": "", "url": "https://disease-ontology.org/term/DOID:5076", "evidence": [ { "id": "5076", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5076" } ], "weight": 0.0 } ], "biological_process": [ { "name": "telomere maintenance in response to DNA damage", "id": "GO:0043247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043247", "evidence": [ { "database": "UniProtKB", "id": "Q0VGM9", "url": "https://www.uniprot.org/uniprotkb/Q0VGM9" } ], "pmid": "" }, { "name": "telomeric loop disassembly", "id": "GO:0090657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090657", "evidence": [ { "database": "UniProtKB", "id": "Q0VGM9", "url": "https://www.uniprot.org/uniprotkb/Q0VGM9" } ], "pmid": "" }, { "name": "negative regulation of t-circle formation", "id": "GO:1904430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904430", "evidence": [ { "database": "UniProtKB", "id": "Q0VGM9", "url": "https://www.uniprot.org/uniprotkb/Q0VGM9" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance in response to DNA damage", "id": "GO:1904506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904506", "evidence": [ { "database": "UniProtKB", "id": "Q0VGM9", "url": "https://www.uniprot.org/uniprotkb/Q0VGM9" } ], "pmid": "" }, { "name": "positive regulation of 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"UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "protein folding chaperone complex", "id": "GO:0101031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101031", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "dynein axonemal particle", "id": "GO:0120293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120293", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "RPAP3/R2TP/prefoldin-like complex", "id": "GO:1990062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990062", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": 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"pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "RNA polymerase II core promoter sequence-specific DNA binding", "id": "GO:0000979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000979", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": "https://www.uniprot.org/uniprotkb/Q9WTM5" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q9WTM5", "url": 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{ "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "Q8R0C3", "url": "https://www.uniprot.org/uniprotkb/Q8R0C3" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "Q8R0C3", "url": "https://www.uniprot.org/uniprotkb/Q8R0C3" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "Q8R0C3", "url": "https://www.uniprot.org/uniprotkb/Q8R0C3" } ], "pmid": "" }, { "name": "sulfate:chloride antiporter activity", "id": "GO:0160044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160044", "evidence": [ { "database": "UniProtKB", "id": "Q8R0C3", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389407400" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Pro42", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28903738", "evidence": [ { "id": "rs3552871590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552871590" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Glu445", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28871447", "evidence": [ { "id": "rs3553339890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553339890" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Asn450", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28871431", "evidence": [ { "id": "rs3389426931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426931" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Asn463", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28869206", "evidence": [ { "id": "rs3389460099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389460099" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Val47", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28903723", "evidence": [ { "id": "rs3553083646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553083646" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ile486", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28868511", "evidence": [ { "id": "rs3552775591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552775591" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Ile487", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28868508", "evidence": [ { "id": "rs3553083876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553083876" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Leu500", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28868468", "evidence": [ { "id": "rs3407560329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407560329" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28868469", "evidence": [ { "id": "rs3407627839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407627839" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Val502", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28868463", "evidence": [ { "id": "rs3389442358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442358" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Thr533", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28868291", "evidence": [ { "id": "rs3389449915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449915" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Phe562", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28867134", "evidence": [ { "id": "rs3389454024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389454024" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "567", "end_pos": "567", "site_lbl": "His567", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28867119", "evidence": [ { "id": "rs3389449803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449803" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Gln570", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28867110", "evidence": [ { "id": "rs3389442404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442404" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Glu575", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28867097", "evidence": [ { "id": "rs3389396352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389396352" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Gly61", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28903682", "evidence": [ { "id": "rs3552872047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552872047" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Val621", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863897", "evidence": [ { "id": "rs3389426915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426915" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Ser650", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863810", "evidence": [ { "id": "rs3389442344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442344" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Gln651", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863806", "evidence": [ { "id": "rs3552997158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552997158" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Thr665", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863765", "evidence": [ { "id": "rs3389447295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389447295" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Arg668", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863755", "evidence": [ { "id": "rs3389439177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389439177" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Gln672", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863742", "evidence": [ { "id": "rs3389463479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389463479" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ser673", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863740", "evidence": [ { "id": "rs3389446323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389446323" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Tyr674", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863736", "evidence": [ { "id": "rs3389416662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389416662" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Ala680", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863720", "evidence": [ { "id": "rs3389440874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389440874" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Glu696", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28863672", "evidence": [ { "id": "rs3389463470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389463470" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Pro804", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857417", "evidence": [ { "id": "rs3389426876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426876" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Pro849", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857597", "evidence": [ { "id": "rs3553229411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553229411" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "892", "end_pos": "892", "site_lbl": "Gln892", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857466", "evidence": [ { "id": "rs3552751874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552751874" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "909", "end_pos": "909", "site_lbl": "Pro909", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857417", "evidence": [ { "id": "rs3389426876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426876" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Leu90", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28895091", "evidence": [ { "id": "rs3389449945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449945" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Leu913", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857404", "evidence": [ { "id": "rs3413117730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413117730" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "927", "end_pos": "927", "site_lbl": "Thr927", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857363", "evidence": [ { "id": "rs3553229553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553229553" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Glu936", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857336", "evidence": [ { "id": "rs3552943151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552943151" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Thr943", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857315", "evidence": [ { "id": "rs3552864770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552864770" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "945", "end_pos": "945", "site_lbl": "Pro945", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857309", "evidence": [ { "id": "rs3553084234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553084234" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "946", "end_pos": "946", "site_lbl": "Glu946", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857304", "evidence": [ { "id": "rs3553007735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553007735" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Thr955", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857278", "evidence": [ { "id": "rs3552996706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552996706" } ] } ] }, { "uniprot_canonical_ac": "Q8R0C3-1", "start_pos": "986", "end_pos": "986", "site_lbl": "Arg986", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "17", "chr_pos": "28857186", "evidence": [ { "id": "rs3553340123", "database": "dbSNP", "url": 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"positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "cellular 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differentiation", "id": "GO:0045606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045606", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "mammary gland epithelial cell differentiation", "id": "GO:0060644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060644", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q61115", "url": "https://www.uniprot.org/uniprotkb/Q61115" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": 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the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": 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"https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7166", "name": "thyroiditis", "description": "", "url": "https://disease-ontology.org/term/DOID:7166", "evidence": [ { "id": "7166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7166" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9965", "name": "toxoplasmosis", "description": "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.", "url": "https://disease-ontology.org/term/DOID:9965", "evidence": [ { "id": "9965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9965" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "mitochondrial permeability transition pore complex", "id": "GO:0005757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005757", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "Bcl-2 family protein complex", "id": "GO:0097136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097136", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "BAX complex", "id": "GO:0097144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097144", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "BAK complex", "id": "GO:0097145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097145", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "execution phase of apoptosis", "id": "GO:0097194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097194", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "response to salt stress", "id": "GO:0009651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009651", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane potential", "id": "GO:0010917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010917", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "glycosphingolipid metabolic process", "id": "GO:0006687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006687", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability involved in programmed necrotic cell death", "id": "GO:1902445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902445", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "B cell negative selection", "id": "GO:0002352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002352", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "B cell homeostatic proliferation", "id": "GO:0002358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002358", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "positive regulation of B cell apoptotic process", "id": "GO:0002904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002904", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "regulation of nitrogen utilization", "id": "GO:0006808", 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"https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum calcium ion concentration", "id": "GO:0032471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032471", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "release of matrix enzymes from mitochondria", "id": "GO:0032976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032976", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-serine phosphorylation", "id": "GO:0033137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033137", 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"" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q07813", "url": "https://www.uniprot.org/uniprotkb/Q07813" } ], "pmid": "" }, { "name": "channel 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97784-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "iPTMnet", "id": "P97784", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97784" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced MAPK-catalyzed in vitro phosphorylation. No effect on inhibition of CLOCK-BMAL1-mediated transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "23746849", "url": "https://glygen.org/publication/PubMed/23746849" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Reduced inhibition of CLOCK-BMAL1-mediated transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "23746849", "url": "https://glygen.org/publication/PubMed/23746849" }, { "database": "PubMed", "id": "15298678", "url": "https://glygen.org/publication/PubMed/15298678" } ] } ] }, { "uniprot_canonical_ac": "P97784-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "iPTMnet", "id": "P97784", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97784" }, { "database": "PubMed", "id": "19833968", "url": "https://glygen.org/publication/PubMed/19833968" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Phosphomimetic mutant that leads to stabilization of the protein; when associated with A-71.", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "19833968", "url": "https://glygen.org/publication/PubMed/19833968" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phosphomimetic mutant that leads to destabilization of the protein and abolishes ability to bind PER2; when associated with D-71.", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "19833968", "url": "https://glygen.org/publication/PubMed/19833968" } ] } ] }, { "uniprot_canonical_ac": "P97784-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Ser588", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "24158435", "url": "https://glygen.org/publication/PubMed/24158435" }, { "database": "iPTMnet", "id": "P97784", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97784" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on circadian period length and protein stability.", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "24158435", "url": "https://glygen.org/publication/PubMed/24158435" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Lengthen circadian period. 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No loss of interaction with DDB1-CUL4A complex.", "evidence": [ { "database": "UniProtKB", "id": "P97784", "url": "https://www.uniprot.org/uniprotkb/P97784" }, { "database": "PubMed", "id": "26431207", "url": "https://glygen.org/publication/PubMed/26431207" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8JZW4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZW4", "url": "https://www.uniprot.org/uniprotkb/Q8JZW4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 593, "chemical_mass": 65592.0, "gene_names": "Cpne5;A830083G22Rik;Cpne5", "protein_name": "Copine-5", "disease": [], "biological_process": [ { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q8JZW4", "url": "https://www.uniprot.org/uniprotkb/Q8JZW4" } ], 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"" }, { "name": "transposable element silencing by piRNA-mediated DNA methylation", "id": "GO:0141196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141196", "evidence": [ { "database": "UniProtKB", "id": "Q9CWR8", "url": "https://www.uniprot.org/uniprotkb/Q9CWR8" } ], "pmid": "" } ], "cellular_component": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q9CWR8", "url": "https://www.uniprot.org/uniprotkb/Q9CWR8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CWR8", "url": "https://www.uniprot.org/uniprotkb/Q9CWR8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CWR8", "url": "https://www.uniprot.org/uniprotkb/Q9CWR8" } ], "pmid": 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optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.", "url": "https://disease-ontology.org/term/DOID:0111438", "evidence": [ { "id": "0111438", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111438" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles 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"evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic vesicle recycling via endosome", "id": "GO:0036466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036466", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "mitochondrial membrane fission", "id": "GO:0090149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090149", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "regulation of peroxisome organization", "id": "GO:1900063", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q8K1M6", "url": "https://www.uniprot.org/uniprotkb/Q8K1M6" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": 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"name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": 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"https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032886", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to 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"pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "positive regulation of membrane permeability", "id": "GO:1905710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905710", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "ERBB2-EGFR signaling pathway", "id": "GO:0038134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038134", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0099645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099645", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "ERBB2-ERBB4 signaling pathway", "id": "GO:0038135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038135", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" } ], "cellular_component": [ { "name": "semaphorin receptor complex", "id": "GO:0002116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002116", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "basolateral plasma 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P70424", "url": "https://www.uniprot.org/uniprotkb/P70424" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": 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"https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "atrioventricular canal development", "id": "GO:0036302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cardiac muscle tissue regeneration", "id": "GO:0061026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061026", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "mitral valve formation", "id": "GO:0003192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003192", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "tricuspid valve formation", "id": "GO:0003195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003195", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "atrial septum secundum morphogenesis", "id": "GO:0003290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003290", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "atrial septum primum morphogenesis", "id": "GO:0003289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003289", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell contraction", "id": "GO:0086004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086004", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "epithelial cell fate commitment", "id": "GO:0072148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072148", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "embryonic heart tube anterior/posterior pattern specification", "id": "GO:0035054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035054", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell proliferation", "id": "GO:0060043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060043", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "lung lobe formation", "id": "GO:0060464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060464", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "diaphragm morphogenesis", "id": "GO:0060540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060540", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "negative regulation of connective tissue replacement", "id": "GO:1905204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905204", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "atrial septum morphogenesis", "id": "GO:0060413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060413", "evidence": [ { "database": "UniProtKB", "id": "Q08369", "url": "https://www.uniprot.org/uniprotkb/Q08369" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { 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"phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q60987", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60987" }, { "database": "PubMed", "id": "17435750", "url": "https://glygen.org/publication/PubMed/17435750" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q61575-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 648, "chemical_mass": 69245.0, "gene_names": "Foxn1;D11Bhm185e;Fkh19;Foxn1;HFH-11;Hfh11;Whn;nude;nu", "protein_name": "Forkhead box protein N1", "disease": [ { "disease_id": "DOID:0060769", "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "description": "A severe combined immunodeficiency characterized by 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"database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "nail development", "id": "GO:0035878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035878", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": "https://www.uniprot.org/uniprotkb/Q61575" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q61575", "url": 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"start_pos": "637", "end_pos": "637", "site_lbl": "Tyr637", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YLS->NLS).", "chr_id": "11", "chr_pos": "78249615", "evidence": [ { "id": "rs3389180600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389180600" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q61850-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61850", "url": "https://www.uniprot.org/uniprotkb/Q61850" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 494, "chemical_mass": 52874.0, "gene_names": "Foxc2;Fkh14;Fkhl14;Foxc2;Hfhbf3;MFH-1;Mfh1", "protein_name": "Forkhead box protein C2", "disease": [ { "disease_id": "DOID:0060260", "name": "ptosis", "description": "An eye disease characterized by the drooping 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], "weight": 0.0 }, { "disease_id": "DOID:4977", "name": "lymphedema", "description": "A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.", "url": "https://disease-ontology.org/term/DOID:4977", "evidence": [ { "id": "4977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4977" } ], "weight": 0.0 }, { "disease_id": "DOID:530", "name": "eyelid disease", "description": "An adnexa disease that is located_in the eyelid.", "url": "https://disease-ontology.org/term/DOID:530", "evidence": [ { "id": "530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:530" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": 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endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "paraxial mesoderm formation", "id": "GO:0048341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048341", "evidence": [ { "database": "UniProtKB", "id": "Q61850", "url": "https://www.uniprot.org/uniprotkb/Q61850" } ], "pmid": "" }, { "name": "positive regulation of vascular wound healing", "id": "GO:0035470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035470", "evidence": [ { "database": "UniProtKB", "id": "Q61850", "url": "https://www.uniprot.org/uniprotkb/Q61850" } ], "pmid": "" }, { "name": "paraxial mesodermal cell fate commitment", "id": "GO:0048343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048343", "evidence": [ { "database": "UniProtKB", "id": "Q61850", "url": "https://www.uniprot.org/uniprotkb/Q61850" } ], 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"Flrt1;D630040I23Rik;Flrt1", "protein_name": "Leucine-rich repeat transmembrane protein FLRT1", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "neuron projection terminus", "id": "GO:0044306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044306", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6RKD8-2", "start_pos": "249", "end_pos": "249", "site_lbl": "Asn249", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72790NZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LQNLTELSLVR", "relation": "attached", "comment": "reported site N221 is on non-canonical isoform Q6RKD8-1 which maps to canonical isoform site Q6RKD8-2:249", "icn3d_view": {}, "start_pos": 249, "start_aa": "Asn", "end_pos": 249, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn249", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q6RKD8-2", "start_pos": "305", "end_pos": "305", "site_lbl": "Asn305", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LDLSNNNLTTLPR", "relation": "attached", "comment": "reported site N277 is on non-canonical isoform Q6RKD8-1 which maps to canonical isoform site Q6RKD8-2:305", "icn3d_view": {}, "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "Q6RKD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6RKD8-2", "start_pos": "600", "end_pos": "600", "site_lbl": "Tyr600", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" }, { "database": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" }, { "database": "iPTMnet", "id": "Q6RKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6RKD8" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreases phosphorylation. Nearly abolishes phosphorylation; when associated with F-633 and F-671.", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" }, { "database": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" } ] } ] }, { "uniprot_canonical_ac": "Q6RKD8-2", "start_pos": "633", "end_pos": "633", "site_lbl": "Tyr633", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" }, { "database": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" }, { "database": "iPTMnet", "id": "Q6RKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6RKD8" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreases phosphorylation. Nearly abolishes phosphorylation; when associated with F-600 and F-671.", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" }, { "database": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" } ] } ] }, { "uniprot_canonical_ac": "Q6RKD8-2", "start_pos": "671", "end_pos": "671", "site_lbl": "Tyr671", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" }, { "database": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" }, { "database": "iPTMnet", "id": "Q6RKD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6RKD8" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreases phosphorylation. Nearly abolishes phosphorylation; when associated with F-600 and F-633.", "evidence": [ { "database": "UniProtKB", "id": "Q6RKD8", "url": "https://www.uniprot.org/uniprotkb/Q6RKD8" }, { "database": "PubMed", "id": "20421966", "url": "https://glygen.org/publication/PubMed/20421966" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q7TPM6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 496, "chemical_mass": 55525.0, "gene_names": "Fsd1;Fsd1", "protein_name": "Fibronectin type III and SPRY domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "regulation of mitotic spindle organization", "id": "GO:0060236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060236", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "Q7TPM6", "url": "https://www.uniprot.org/uniprotkb/Q7TPM6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TPM6-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Thr322", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 322, "start_aa": "Thr", "end_pos": 322, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr322", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P14719-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 567, "chemical_mass": 64801.0, "gene_names": "Il1rl1;DER4;Fit-1;Il1rl1;Ly84;ST2L;St2-rs1;St2;Ste2;T1/ST2;T1", "protein_name": "Interleukin-1 receptor-like 1", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0080810", "name": "acute asthma", "description": "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.", "url": "https://disease-ontology.org/term/DOID:0080810", "evidence": [ { "id": "0080810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080810" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12662", "name": "paracoccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.", "url": "https://disease-ontology.org/term/DOID:12662", "evidence": [ { "id": "12662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12662" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "interleukin-33 binding", "id": "GO:0002113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002113", "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "pmid": "" }, { "name": "interleukin-33 receptor activity", "id": "GO:0002114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002114", "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "pmid": "" }, { "name": "interleukin-1 receptor activity", "id": "GO:0004908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004908", "evidence": [ { "database": 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"pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14719", "url": "https://www.uniprot.org/uniprotkb/P14719" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": 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It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4648", "name": "familial retinoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4648", "evidence": [ { "id": "4648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4648" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of extracellular matrix organization", "id": "GO:1903055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903055", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of hepatocyte apoptotic process", "id": "GO:1903944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903944", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "enucleate erythrocyte differentiation", "id": "GO:0043353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043353", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "protein localization to chromosome, centromeric region", "id": "GO:0071459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071459", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of myofibroblast differentiation", "id": "GO:1904761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904761", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "positive regulation of mitotic metaphase/anaphase transition", "id": "GO:0045842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045842", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "glial cell apoptotic process", "id": "GO:0034349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034349", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "regulation of lipid kinase activity", "id": "GO:0043550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043550", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "positive regulation of collagen fibril organization", "id": "GO:1904028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904028", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "cell morphogenesis involved in neuron differentiation", "id": "GO:0048667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048667", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "maintenance of mitotic sister chromatid cohesion", "id": "GO:0034088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034088", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "neuron maturation", "id": "GO:0042551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "sister chromatid biorientation", "id": "GO:0031134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031134", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" } ], "molecular_function": [ { "name": "importin-alpha family protein binding", "id": "GO:0061676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061676", "evidence": [ { "database": "UniProtKB", "id": "P13405", "url": "https://www.uniprot.org/uniprotkb/P13405" } ], "pmid": "" }, { "name": "molecular adaptor 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bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "negative regulation of cell 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"name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "positive regulation of protein localization to 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"" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "regulation of lamellipodium assembly", "id": "GO:0010591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010591", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "axial mesoderm formation", "id": "GO:0048320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048320", "evidence": [ { "database": "UniProtKB", "id": "Q03145", "url": "https://www.uniprot.org/uniprotkb/Q03145" } ], "pmid": "" }, { "name": "notochord formation", 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The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0060038", "name": "specific developmental disorder", "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.", "url": "https://disease-ontology.org/term/DOID:0060038", "evidence": [ { "id": "0060038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060038" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0090110", "name": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "description": "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0090110", "evidence": [ { "id": "0090110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090110" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. 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The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID:401", "name": "multidrug-resistant tuberculosis", "description": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.", "url": "https://disease-ontology.org/term/DOID:401", "evidence": [ { "id": "401", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:401" } ], "weight": 0.0 }, { "disease_id": "DOID:4166", "name": "syphilis", "description": "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.", "url": "https://disease-ontology.org/term/DOID:4166", "evidence": [ { "id": "4166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9169", "name": "Wiskott-Aldrich syndrome", "description": "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).", "url": "https://disease-ontology.org/term/DOID:9169", "evidence": [ { "id": "9169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9169" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of chronic inflammatory response", "id": "GO:0002677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002677", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of T cell tolerance induction", "id": "GO:0002666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002666", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "regulation of immunoglobulin production", "id": "GO:0002637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002637", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment", "id": "GO:0002362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002362", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "tolerance induction to self antigen", "id": "GO:0002513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002513", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of T cell cytokine production", "id": "GO:0002725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002725", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of peripheral T cell tolerance induction", "id": "GO:0002851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002851", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-2 production", "id": "GO:0032703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032703", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-5 production", "id": "GO:0032714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032714", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0032831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032831", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta1 production", "id": "GO:0032914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032914", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of immature T cell proliferation in thymus", "id": "GO:0033092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033092", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "regulation of isotype switching to IgG isotypes", "id": "GO:0048302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048302", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of T-helper 17 cell differentiation", "id": "GO:2000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000320", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "regulation of T cell anergy", "id": "GO:0002667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002667", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "myeloid cell homeostasis", "id": "GO:0002262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-4 production", "id": "GO:0032713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032713", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of regulatory T cell differentiation", "id": "GO:0045591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045591", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of isotype switching to IgE isotypes", "id": "GO:0048294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048294", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "T cell mediated immunity", "id": "GO:0002456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002456", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "negative regulation of defense response to virus", "id": "GO:0050687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050687", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of T cell anergy", "id": "GO:0002669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002669", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "positive regulation of interleukin-4 production", "id": "GO:0032753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032753", "evidence": [ { "database": "UniProtKB", "id": "Q99JB6", "url": "https://www.uniprot.org/uniprotkb/Q99JB6" } ], "pmid": "" }, { "name": "tolerance induction", "id": "GO:0002507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002507", 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"id": "Q6PHZ2", "url": "https://www.uniprot.org/uniprotkb/Q6PHZ2" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell action potential", "id": "GO:0098901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098901", "evidence": [ { "database": "UniProtKB", "id": "Q6PHZ2", "url": "https://www.uniprot.org/uniprotkb/Q6PHZ2" } ], "pmid": "" }, { "name": "negative regulation of sodium ion transmembrane transport", "id": "GO:1902306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902306", "evidence": [ { "database": "UniProtKB", "id": "Q6PHZ2", "url": "https://www.uniprot.org/uniprotkb/Q6PHZ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PHZ2", "url": "https://www.uniprot.org/uniprotkb/Q6PHZ2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": 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newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion.", "url": "https://disease-ontology.org/term/DOID:14264", "evidence": [ { "id": "14264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14264" } ], "weight": 0.0 }, { "disease_id": "DOID:2843", "name": "long QT syndrome", "description": "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).", "url": "https://disease-ontology.org/term/DOID:2843", "evidence": [ { "id": "2843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2843" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to ammonium ion", "id": "GO:0071242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071242", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "substantia propria of cornea development", "id": "GO:1903701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903701", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "excitatory chemical synaptic transmission", "id": "GO:0098976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098976", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "psychomotor behavior", "id": "GO:0036343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036343", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "action potential initiation", "id": "GO:0099610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099610", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": 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"" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8K3F6", "url": "https://www.uniprot.org/uniprotkb/Q8K3F6" } ], "pmid": "" }, { "name": "neuronal cell body", 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"batch.mouse.4" }, { "uniprot_canonical_ac": "Q9R226-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R226", "url": "https://www.uniprot.org/uniprotkb/Q9R226" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 346, "chemical_mass": 38807.0, "gene_names": "Khdrbs3;Etle;Khdrbs3;SLM-2;Salp;Slm2;T-STAR", "protein_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 3", "disease": [], "biological_process": [ { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q9R226", "url": "https://www.uniprot.org/uniprotkb/Q9R226" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9R226", "url": 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"https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle contraction", "id": "GO:0055118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055118", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "negative regulation of macrophage 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"Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": 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"sequence_mut": "N", "comment": "Loss of RNase activity. Loss of mRNAs and miRNAs degradation. Loss of protein deubiquitination and suppression of inhibition on JNK and NF-kappa-B signaling pathway activation. Inhibits induction of angiogenesis and macrophage M2 polarization. Mislocalized in stress granule (SG). Loss of the ability to inhibit SG formation under stress. Does not inhibit binding to IL6 mRNA. Increases ICOS surface expression.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "25934862", "url": "https://glygen.org/publication/PubMed/25934862" }, { "database": "PubMed", "id": "21115689", "url": "https://glygen.org/publication/PubMed/21115689" }, { "database": "PubMed", "id": "23706741", "url": "https://glygen.org/publication/PubMed/23706741" }, { "database": "PubMed", "id": "26000482", "url": "https://glygen.org/publication/PubMed/26000482" }, { "database": "PubMed", "id": "19322177", "url": "https://glygen.org/publication/PubMed/19322177" }, { "database": "PubMed", "id": "21971051", "url": "https://glygen.org/publication/PubMed/21971051" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Cys157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of protein deubiquitination and suppression of inhibition on JNK and NF-kappa-B signaling pathway activation. Loss of the ability to inhibit stress granule (SG) formation. No loss of RNase activity. No effect on ICOS surface expression.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "21115689", "url": "https://glygen.org/publication/PubMed/21115689" }, { "database": "PubMed", "id": "21971051", "url": "https://glygen.org/publication/PubMed/21971051" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Arg158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces MALT1-dependent cleavage and degradation in T-cells.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "23706741", "url": "https://glygen.org/publication/PubMed/23706741" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Arg214", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Reduces MALT1-dependent cleavage and degradation in T-cells.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "23706741", "url": "https://glygen.org/publication/PubMed/23706741" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asp225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of RNase activity, no loss of protein deubiquitination and ability to inhibit stress granule (SG) formation under stress; when associated with A-226.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "21971051", "url": "https://glygen.org/publication/PubMed/21971051" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asp226", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of RNase activity and no loss of protein deubiquitination; when associated with A-226.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "21971051", "url": "https://glygen.org/publication/PubMed/21971051" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Asp278", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of inhibition on JNK and NF-kappa-B signaling pathway activation; when associated with A-279.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "21115689", "url": "https://glygen.org/publication/PubMed/21115689" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Asp279", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of inhibition on JNK and NF-kappa-B signaling pathway activation; when associated with A-278.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "21115689", "url": "https://glygen.org/publication/PubMed/21115689" } ] } ] }, { "uniprot_canonical_ac": "Q5D1E7-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Cys306", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Loss of protein deubiquitination and suppression of inhibition on JNK and NF-kappa-B signaling pathway activations. No loss of RNase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5D1E7", "url": "https://www.uniprot.org/uniprotkb/Q5D1E7" }, { "database": "PubMed", "id": "21115689", "url": "https://glygen.org/publication/PubMed/21115689" }, { "database": "PubMed", "id": "19322177", "url": "https://glygen.org/publication/PubMed/19322177" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9R109-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R109", "url": "https://www.uniprot.org/uniprotkb/Q9R109" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 243, "chemical_mass": 28228.0, "gene_names": "Oaz3;AZ3;Az-3;Oaz-t;Oaz3", "protein_name": "Ornithine decarboxylase antizyme 3", "disease": [], "biological_process": [ { "name": "negative regulation of polyamine transmembrane transport", "id": "GO:1902268", "url": 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} ] } ] }, { "uniprot_canonical_ac": "Q9R109-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R109", "url": "https://www.uniprot.org/uniprotkb/Q9R109" } ] } ] }, { "uniprot_canonical_ac": "Q9R109-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R109", "url": "https://www.uniprot.org/uniprotkb/Q9R109" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "E9Q286-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q286", "url": "https://www.uniprot.org/uniprotkb/E9Q286" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2241, "chemical_mass": 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"id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P15209", "url": "https://www.uniprot.org/uniprotkb/P15209" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:11206", "name": "opioid abuse", "description": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:11206", "evidence": [ { "id": "11206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11206" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of appetite", "id": "GO:0032100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032100", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007197", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "negative regulation of luteinizing hormone secretion", "id": "GO:0033685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033685", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "sperm ejaculation", "id": "GO:0042713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042713", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting opioid receptor signaling pathway", "id": "GO:0031635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031635", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "G protein-coupled opioid receptor signaling pathway", "id": "GO:0038003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038003", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "negative regulation of Wnt protein secretion", "id": "GO:0061358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061358", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "regulation of cellular response to stress", "id": "GO:0080135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080135", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106072", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P42866", "url": "https://www.uniprot.org/uniprotkb/P42866" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { 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"url": "https://www.uniprot.org/uniprotkb/Q91WD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P53395-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53395", "url": "https://www.uniprot.org/uniprotkb/P53395" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 482, "chemical_mass": 53247.0, "gene_names": "Dbt;BCKAD E2;BCKAD-E2;D3Wsu60e;Dbt", "protein_name": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial", "disease": [ { "disease_id": "DOID:0061207", "name": "maple syrup urine disease type II", "description": "A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on 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"evidence": [ { "database": "UniProtKB", "id": "P53395", "url": "https://www.uniprot.org/uniprotkb/P53395" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8R480-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R480", "url": "https://www.uniprot.org/uniprotkb/Q8R480" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 656, "chemical_mass": 74776.0, "gene_names": "Nup85;Nup85;Pcnt1;frount", "protein_name": "Nuclear pore complex protein Nup85", "disease": [ { "disease_id": "DOID:0080392", "name": "nephrotic syndrome type 17", "description": "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0080392", "evidence": [ { "id": "0080392", "database": "AGR", "url": 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[ { "database": "UniProtKB", "id": "Q8R480", "url": "https://www.uniprot.org/uniprotkb/Q8R480" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8R4G0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4G0", "url": "https://www.uniprot.org/uniprotkb/Q8R4G0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 539, "chemical_mass": 60566.0, "gene_names": "Ntng1;A930010C08Rik;Kiaa0976;Lmnt1;Ntng1", "protein_name": "Netrin-G1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G0", "url": "https://www.uniprot.org/uniprotkb/Q8R4G0" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": 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"establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "positive regulation of transcription elongation by RNA polymerase II", "id": "GO:0032968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032968", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "positive regulation of RNA polymerase II transcription preinitiation complex assembly", "id": "GO:0045899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045899", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "retinal bipolar neuron differentiation", "id": "GO:0060040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060040", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "lymphocyte differentiation", "id": "GO:0030098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030098", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "amacrine cell differentiation", "id": "GO:0035881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035881", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "gland development", "id": "GO:0048732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048732", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "positive regulation of neutrophil differentiation", "id": "GO:0045660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045660", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "regulation of lymphocyte differentiation", "id": "GO:0045619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045619", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "poly-pyrimidine tract binding", "id": "GO:0008187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008187", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03267-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. No change in pericentromeric location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No change in binding to gamma satellites A and B. No change in pericentromeric location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. No change in binding to gamma satellites A and B. No change in pericentromeric location. Increased DNA binding affinity toward TDT.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Decreased binding to gamma satellite A by 5-fold and to gamma satellite B by 3-fold. Diffuse nuclear location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes phosphorylation, DNA binding and pericentromeric location. Loss of DNA binding and pericentromeric location; when associated with A-167 and A-195.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Abolishes phosphorylation, DNA binding and pericentromeric location. Loss of DNA binding and pericentromeric location; when associated with E-167 and D-195.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation, no effect on DNA binding nor on pericentromeric location. Loss of DNA binding and pericentromeric location; when associated with A-140 and A-195.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes phosphorylation, no effect on DNA binding nor on pericentromeric location. Loss of DNA binding and pericentromeric location; when associated with E-140 and D-195.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation, no effect on DNA binding nor on pericentromeric location. Loss of DNA binding and pericentromeric location; when associated with A-140 and A-167.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Abolishes phosphorylation, no effect on DNA binding nor on pericentromeric location. Loss of DNA binding and pericentromeric location; when associated with E-140 and E-167.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "12464629", "url": "https://glygen.org/publication/PubMed/12464629" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes phosphorylation. No change in binding to gamma satellites A and B. No change in pericentromeric location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Decreased binding to gamma satellites A and B by 3-fold. Little change in pericentromeric location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ser287", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. No change in binding to gamma satellites A and B. No change in pericentromeric location. Increased DNA binding affinity toward TDT.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Decreased binding to gamma satellite A by 5-fold and to gamma satellite B by 3-fold. Diffuse nuclear location. Decreased DNA binding affinity toward TdT by 3-fold.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Significantly reduced phosphorylation and 2- to 3-fold increase in ability to arrest in G(1); when associated with A-386; A-388; A-392 and A-393. and A-392. Further reduction in phosphorylation; when associated with A-63; A-386; A-388; A-392 and A-393.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ser386", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Significantly reduced phosphorylation and 2- to 3-fold increase in ability to arrest in G(1); when associated with A-384; A-388; A-392 and A-393. Further reduction in phosphorylation; when associated with A-63; A-384; A-388; A-392 and A-393.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Significantly reduced phosphorylation and 2- to 3-fold increase in ability to arrest in G(1); when associated with A-384; A-386; A-392 and A-393. Further reduction in phosphorylation; when associated with A-63; A-384; A-386; A-392 and A-393.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Ser392", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Significantly reduced phosphorylation and 2- to 3-fold increase in ability to arrest in G(1); when associated with A-384; A-386; A-388 and A-392. Further reduction in phosphorylation; when associated with A-63; A-384; A-386; A-386 and A-388.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Thr393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Significantly reduced phosphorylation and 2- to 3-fold increase in ability to arrest in G(1); when associated with A-384; A-386; A-388 and A-392. Further reduction in phosphorylation; when associated with A-63; A-384; A-386; A-388 and A-392.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Ser397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ser440", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" }, { "database": "iPTMnet", "id": "Q03267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03267" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in pericentromeric location. Greatly reduced phosphorylation; when associated with A-384; A-386; A-388; A392 and A-393. No effect on DNA-binding activity. Increased DNA-binding activity; when associated with A-384; A-386; A-388; A-392 and A-393.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No change in binding to gamma satellites A and B. No change in pericentromeric location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15024069", "url": "https://glygen.org/publication/PubMed/15024069" }, { "database": "PubMed", "id": "18223295", "url": "https://glygen.org/publication/PubMed/18223295" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Phe153", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Disrupts pericentromeric heterochromatin location. Partial cytoplasmic location. Abolishes DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Thr154", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Gln155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Loss of pericentromeric heterochromatin location. Disrupted DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Lys156", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Disrupts pericentromeric heterochromatin location. Partial cytoplasmic location.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Gly157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of pericentromeric heterochromatin location. Disrupted DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Asn158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of pericentromeric heterochromatin location. Abolishes DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Leu159", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Leu160", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Arg161", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Disrupts pericentromeric heterochromatin location. Partial cytoplasmic location. Abolishes DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Lys173", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asn178", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Tyr179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of pericentromeric heterochromatin location. Abolishes DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ala180", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "L", "comment": "Loss of pericentromeric heterochromatin location. Disrupted DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Cys181", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Arg182", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Arg183", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Disrupts pericentromeric heterochromatin location. Partial cytoplasmic location. Abolishes DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Arg184", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asp185", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. Disrupted DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ala186", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "L", "comment": "No effect on pericentromeric heterochromatin location. Disrupted DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Leu187", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of pericentromeric heterochromatin location. Abolishes DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Thr188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Gly189", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. Disrupted DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Arg192", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Thr193", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on pericentromeric heterochromatin location. No change in DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "10970879", "url": "https://glygen.org/publication/PubMed/10970879" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Lys239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation. Complete loss of sumoylation, increased repressor activity but no change in pericentromeric heterochromatin location.; when associated with R-58 and R-459.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15767674", "url": "https://glygen.org/publication/PubMed/15767674" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Lys424", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15767674", "url": "https://glygen.org/publication/PubMed/15767674" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Lys458", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q03267", "url": "https://www.uniprot.org/uniprotkb/Q03267" }, { "database": "PubMed", "id": "15767674", "url": "https://glygen.org/publication/PubMed/15767674" } ] } ] }, { "uniprot_canonical_ac": "Q03267-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Lys58", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Some loss of sumoylation. 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"start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C735", "url": "https://www.uniprot.org/uniprotkb/Q8C735" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C735", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C735" } ] } ] }, { "uniprot_canonical_ac": "Q8C735-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C735", "url": "https://www.uniprot.org/uniprotkb/Q8C735" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C735", "url": 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1029, "chemical_mass": 115202.0, "gene_names": "Hip1;2610109B09Rik;A930014B11Rik;E130315I21Rik;Hip1;Kiaa4113;mKIAA4113", "protein_name": "Huntingtin-interacting protein 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000588", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "Q8VD75", "url": "https://www.uniprot.org/uniprotkb/Q8VD75" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic 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"site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19001", "url": "https://www.uniprot.org/uniprotkb/P19001" } ] } ] }, { "uniprot_canonical_ac": "P19001-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Thr326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19001", "url": "https://www.uniprot.org/uniprotkb/P19001" } ] } ] }, { "uniprot_canonical_ac": "P19001-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19001", "url": "https://www.uniprot.org/uniprotkb/P19001" } ] } ] }, { "uniprot_canonical_ac": "P19001-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Tyr394", "weight": 0.0, "phosphorylation": [ { 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} ] } ] }, { "uniprot_canonical_ac": "P19001-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19001", "url": "https://www.uniprot.org/uniprotkb/P19001" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19001", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P19001" } ] } ] }, { "uniprot_canonical_ac": "P19001-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Ser75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19001", "url": "https://www.uniprot.org/uniprotkb/P19001" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19001", "url": 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}, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "A1 adenosine receptor binding", "id": "GO:0031686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031686", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "C3HC4-type RING finger domain binding", "id": "GO:0055131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055131", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "ATP-dependent protein disaggregase activity", "id": "GO:0140545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140545", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "prostaglandin binding", "id": "GO:1904593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904593", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "clathrin-uncoating ATPase activity", "id": "GO:1990833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990833", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "late endosome lumen", "id": "GO:0031906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031906", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "neuron spine", "id": "GO:0044309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044309", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "glycinergic synapse", "id": "GO:0098690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098690", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "lysosomal matrix", "id": "GO:1990836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990836", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": "https://www.uniprot.org/uniprotkb/P63017" } ], "pmid": "" }, { "name": "protein folding chaperone complex", "id": "GO:0101031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101031", "evidence": [ { "database": "UniProtKB", "id": "P63017", "url": 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"uniprot_canonical_ac": "O88310-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Arg162", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358681", "evidence": [ { "id": "rs3539925753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539925753" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Lys163", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358677", "evidence": [ { "id": "rs31537348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31537348" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Gly16", "weight": 0.0, "snv": [ { "sequence_org": 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"171358633", "evidence": [ { "id": "rs1134625814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134625814" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Cys17", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171362330", "evidence": [ { "id": "rs3539935414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539935414" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Lys188", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358604", "evidence": [ { "id": "rs1134032543", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134032543" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Tyr190", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358177", "evidence": [ { "id": "rs1132121489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132121489" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Gly195", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358164", "evidence": [ { "id": "rs32321038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32321038" } ] }, { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358163", "evidence": [ { "id": "rs1132035289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132035289" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358164", "evidence": [ { "id": "rs32321038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32321038" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Glu196", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358160", "evidence": [ { "id": "rs1134037999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134037999" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358160", "evidence": [ { "id": "rs1134037999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134037999" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Gly197", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358157", "evidence": [ { "id": "rs1131856207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131856207" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Lys198", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358155", "evidence": [ { "id": "rs3539928188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539928188" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Cys199", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358151", "evidence": [ { "id": "rs1135195454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135195454" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Pro205", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358134", "evidence": [ { "id": "rs1132931376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132931376" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Leu207", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358126", "evidence": [ { "id": "rs1132668251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132668251" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358128", "evidence": [ { "id": "rs31537349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31537349" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358128", "evidence": [ { "id": "rs31537349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31537349" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Tyr211", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358116", "evidence": [ { "id": "rs3388513463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388513463" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Arg217", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358097", "evidence": [ { "id": "rs581378716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581378716" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358086", "evidence": [ { "id": "rs32796948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32796948" } ] }, { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358085", "evidence": [ { "id": "rs1134534402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134534402" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358076", "evidence": [ { "id": "rs3388516670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388516670" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358070", "evidence": [ { "id": "rs1135325889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135325889" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358070", "evidence": [ { "id": "rs1135325889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135325889" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Gln228", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171358064", "evidence": [ { "id": "rs1133651885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133651885" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Arg229", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356792", "evidence": [ { "id": "rs1132153449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132153449" } ] }, { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356792", "evidence": [ { "id": "rs1132153449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132153449" } ] }, { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356791", "evidence": [ { "id": "rs1134157791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134157791" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Glu22", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171361027", "evidence": [ { "id": "rs3390903390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390903390" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Glu230", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356790", "evidence": [ { "id": "rs1135327036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135327036" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Asn23", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171361024", "evidence": [ { "id": "rs3388516708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388516708" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ala247", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356738", "evidence": [ { "id": "rs3539935357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539935357" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Val254", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356718", "evidence": [ { "id": "rs1132957496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132957496" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Arg255", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356714", "evidence": [ { "id": "rs1134593128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134593128" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asp25", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171361018", "evidence": [ { "id": "rs3390903410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390903410" } ] }, { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171361018", "evidence": [ { "id": "rs3390903410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390903410" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Asn260", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356700", "evidence": [ { "id": "rs1134337631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134337631" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Thr261", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356697", "evidence": [ { "id": "rs3390995981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390995981" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "263", "end_pos": "263", "site_lbl": "His263", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356691", "evidence": [ { "id": "rs1132753260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132753260" } ] }, { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356690", "evidence": [ { "id": "rs3390949845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390949845" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171356691", "evidence": [ { "id": "rs1132753260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132753260" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Gly275", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345928", "evidence": [ { "id": "rs1134502245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134502245" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345928", "evidence": [ { "id": "rs1134502245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134502245" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345927", "evidence": [ { "id": "rs1131745197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131745197" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asn276", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345925", "evidence": [ { "id": "rs1132830708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132830708" } ] }, { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345925", "evidence": [ { "id": "rs1132830708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132830708" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Val278", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345918", "evidence": [ { "id": "rs1134926256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134926256" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345919", "evidence": [ { "id": "rs1134500334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134500334" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345919", "evidence": [ { "id": "rs1134500334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134500334" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Gln279", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345916", "evidence": [ { "id": "rs1132067468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132067468" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Asp282", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345907", "evidence": [ { "id": "rs3388516245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388516245" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ala284", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345900", "evidence": [ { "id": "rs3539934700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539934700" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Ser285", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345898", "evidence": [ { "id": "rs1134496167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134496167" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Trp288", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345889", "evidence": [ { "id": "rs1134279251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134279251" } ] }, { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345888", "evidence": [ { "id": "rs1133015987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133015987" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Asp289", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345886", "evidence": [ { "id": "rs585682349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585682349" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345867", "evidence": [ { "id": "rs108800720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108800720" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345867", "evidence": [ { "id": "rs108800720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108800720" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Gly296", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345865", "evidence": [ { "id": "rs32754554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32754554" } ] }, { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345865", "evidence": [ { "id": "rs32754554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32754554" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Tyr297", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345861", "evidence": [ { "id": "rs33860167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33860167" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345861", "evidence": [ { "id": "rs33860167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33860167" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345855", "evidence": [ { "id": "rs1132063484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063484" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Arg301", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345849", "evidence": [ { "id": "rs1131735668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131735668" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Lys302", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345847", "evidence": [ { "id": "rs584496238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584496238" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Glu305", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345838", "evidence": [ { "id": "rs3388516682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388516682" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ala307", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345832", "evidence": [ { "id": "rs3539924035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539924035" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Gly30", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171361002", "evidence": [ { "id": "rs3539925157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539925157" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Arg313", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171345813", "evidence": [ { "id": "rs3539923112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539923112" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Asn31", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360998", "evidence": [ { "id": "rs1133148672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133148672" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360996", "evidence": [ { "id": "rs1132043905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132043905" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360987", "evidence": [ { "id": "rs3390999462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390999462" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360985", "evidence": [ { "id": "rs3388516998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388516998" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Arg39", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360975", "evidence": [ { "id": "rs1135225124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135225124" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Glu47", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360951", "evidence": [ { "id": "rs3539934541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539934541" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "48", "end_pos": "48", "site_lbl": "His48", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360949", "evidence": [ { "id": "rs217580490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217580490" } ] }, { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360948", "evidence": [ { "id": "rs1134816041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134816041" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Thr49", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360945", "evidence": [ { "id": "rs1134622924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134622924" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Gln52", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171360936", "evidence": [ { "id": "rs3539929348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539929348" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Arg59", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171359303", "evidence": [ { "id": "rs1133979992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133979992" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Gly5", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171362367", "evidence": [ { "id": "rs3539924602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539924602" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171359301", "evidence": [ { "id": "rs1133829892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133829892" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Lys61", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171359298", "evidence": [ { "id": "rs47001749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47001749" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Thr74", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171359258", "evidence": [ { "id": "rs3539930015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539930015" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Met90", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171359211", "evidence": [ { "id": "rs46137372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46137372" } ] } ] }, { "uniprot_canonical_ac": "O88310-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Arg91", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "1", "chr_pos": "171359208", "evidence": [ { "id": "rs1134891862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134891862" } ] }, 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