[ { "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": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050868", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of tolerance induction", "id": "GO:0002644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002644", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated immune response to tumor cell", "id": "GO:0002841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002841", "evidence": [ { "database": "UniProtKB", "id": "Q02242", "url": "https://www.uniprot.org/uniprotkb/Q02242" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02242-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Asn116", "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": 116, 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"UniProtKB", "id": "Q61481", "url": "https://www.uniprot.org/uniprotkb/Q61481" } ], "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": "Q61481", "url": "https://www.uniprot.org/uniprotkb/Q61481" } ], "pmid": "" } ], "cellular_component": [ { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q61481", "url": "https://www.uniprot.org/uniprotkb/Q61481" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61481", "url": "https://www.uniprot.org/uniprotkb/Q61481" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q61481", "url": "https://www.uniprot.org/uniprotkb/Q61481" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61481-4", "start_pos": "13", "end_pos": "13", "site_lbl": "Asn13", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G22784RF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSTDTDIEELENATYKYLIGEQTEKMWQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 13, "start_aa": "Asn", "end_pos": 13, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn13", "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": "Q61481-4", "start_pos": "170", "end_pos": "170", "site_lbl": 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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 } ], "biological_process": [ { "name": "glycerophospholipid metabolic process", "id": "GO:0006650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006650", "evidence": [ { "database": "UniProtKB", "id": "Q61907", "url": "https://www.uniprot.org/uniprotkb/Q61907" } ], "pmid": "" }, { "name": "response to vitamin", "id": "GO:0033273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033273", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006656", "evidence": [ { "database": "UniProtKB", "id": "Q61907", "url": "https://www.uniprot.org/uniprotkb/Q61907" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61907", "url": "https://www.uniprot.org/uniprotkb/Q61907" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q61907", "url": "https://www.uniprot.org/uniprotkb/Q61907" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q61907", "url": "https://www.uniprot.org/uniprotkb/Q61907" } ], "pmid": "" }, { "name": "S-adenosylhomocysteine metabolic process", "id": "GO:0046498", "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": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "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": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "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": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "ureter smooth muscle cell differentiation", "id": "GO:0072193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072193", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "olfactory placode formation", "id": "GO:0030910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030910", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "trigeminal ganglion development", "id": "GO:0061551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061551", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "metanephric mesenchyme development", "id": "GO:0072075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072075", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of skeletal muscle cell differentiation", "id": "GO:2001014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001014", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of synaptic assembly at neuromuscular junction", "id": "GO:0008582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008582", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation", "id": "GO:0010463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010463", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of ureteric bud formation", "id": "GO:0072107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072107", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "regulation of branch elongation involved in ureteric bud branching", "id": "GO:0072095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072095", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "positive regulation of secondary heart field cardioblast proliferation", "id": "GO:0072513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072513", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "specification of segmental identity, maxillary segment", "id": "GO:0007382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007382", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "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": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q62231", "url": "https://www.uniprot.org/uniprotkb/Q62231" } 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"gene_names": "Tp73;Trp73;P73;TAp73;Tp73;Trp73;deltaNp73;p73", "protein_name": "Tumor protein p73", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060081", "name": "triple-receptor negative breast cancer", "description": "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors.", "url": "https://disease-ontology.org/term/DOID:0060081", "evidence": [ { "id": "0060081", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060081" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the 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"https://www.alliancegenome.org/disease/DOID:684" } ], "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: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: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": "glycerophospholipid metabolic process", "id": "GO:0006650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006650", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "lipid droplet organization", "id": "GO:0034389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034389", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triglyceride acyl-chain remodeling", "id": "GO:0036153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036153", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "response to sucrose", "id": "GO:0009744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009744", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "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": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" } ], "molecular_function": [ { "name": "1-acylglycerol-3-phosphate O-acyltransferase activity", "id": "GO:0003841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003841", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "lysophosphatidic acid acyltransferase activity", "id": "GO:0042171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042171", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "long-chain fatty acyl-CoA binding", "id": "GO:0036042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036042", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "mono-olein transacylation activity", "id": "GO:0051264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051264", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": "https://www.uniprot.org/uniprotkb/Q91WW7" } ], "pmid": "" }, { "name": "diolein transacylation activity", "id": "GO:0051265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051265", "evidence": [ { "database": "UniProtKB", "id": "Q91WW7", "url": 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"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": 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"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": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "respiratory burst involved in defense response", "id": "GO:0002679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002679", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "hypochlorous acid biosynthetic process", "id": "GO:0002149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002149", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "response to gold nanoparticle", "id": "GO:1990268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990268", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "neutrophil-mediated killing of bacterium", "id": "GO:0070944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070944", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "neutrophil extracellular trap formation", "id": "GO:0140645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140645", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "neutrophil-mediated killing of symbiont cell", "id": "GO:0070943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070943", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P11247", "url": "https://www.uniprot.org/uniprotkb/P11247" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": 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{ "uniprot_canonical_ac": "Q61469-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ala272", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "113004064", "evidence": [ { "id": "rs3389315575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389315575" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Arg275", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "113004074", "evidence": [ { "id": "rs233140358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233140358" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Thr28", 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"end_pos": "223", "site_lbl": "His223", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Loss of lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Ile233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "No significant effect on lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asn276", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No effect on lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] }, { "uniprot_canonical_ac": "Q61469-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Decreased lipid phosphatase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61469", "url": "https://www.uniprot.org/uniprotkb/Q61469" }, { "database": "PubMed", "id": "10620492", "url": "https://glygen.org/publication/PubMed/10620492" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q7M6Y3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 660, "chemical_mass": 71543.0, "gene_names": "Picalm;CALM;CLTH;Calm;Fit1;PAP180;Picalm;fit-1;fit1;mKIAA4114", "protein_name": "Phosphatidylinositol-binding clathrin assembly protein", "disease": [ { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "membrane bending", "id": "GO:0097753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097753", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "regulation of protein transport", "id": "GO:0051223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051223", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "positive regulation of synaptic vesicle endocytosis", "id": "GO:1900244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900244", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "regulation of terminal button organization", "id": "GO:2000331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000331", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q7M6Y3", "url": "https://www.uniprot.org/uniprotkb/Q7M6Y3" } 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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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"P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", 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"name": "negative regulation of mesenchymal cell proliferation", "id": "GO:0072201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072201", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61372", "url": "https://www.uniprot.org/uniprotkb/P61372" } ], "pmid": "" }, { "name": 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q03717", "url": "https://www.uniprot.org/uniprotkb/Q03717" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 857, "chemical_mass": 95591.0, "gene_names": "Kcnb1;Kcnb1;Kcr1-1;Kv2.1;Shab", "protein_name": "Potassium voltage-gated channel subfamily B member 1", "disease": [ { "disease_id": "DOID:0080461", "name": "developmental and epileptic encephalopathy 26", "description": "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0080461", "evidence": [ { "id": "0080461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080461" } ], "weight": 0.0 }, { "disease_id": "DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.", "url": "https://disease-ontology.org/term/DOID:0112202", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ], "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": 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"positive regulation of norepinephrine secretion", "id": "GO:0010701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010701", "evidence": [ { "database": "UniProtKB", "id": "Q03717", "url": "https://www.uniprot.org/uniprotkb/Q03717" } ], "pmid": "" }, { "name": "regulation of action potential", "id": "GO:0098900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098900", "evidence": [ { "database": "UniProtKB", "id": "Q03717", "url": "https://www.uniprot.org/uniprotkb/Q03717" } ], "pmid": "" }, { "name": "regulation of motor neuron apoptotic process", "id": "GO:2000671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000671", "evidence": [ { "database": "UniProtKB", "id": "Q03717", "url": "https://www.uniprot.org/uniprotkb/Q03717" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q03717", "url": "https://www.uniprot.org/uniprotkb/Q03717" } ], "pmid": "" 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"GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "cellular response to pH", "id": "GO:0071467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071467", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "potassium ion export across plasma membrane", "id": "GO:0097623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097623", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" }, { "name": "regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0032829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032829", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "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": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q6VV64", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6VV64#ptm_processing" }, { "id": "20006580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20006580" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Strongly reduced current amplitude and localization to cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "20006580", "url": "https://glygen.org/publication/PubMed/20006580" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "18397886", "url": "https://glygen.org/publication/PubMed/18397886" }, { "database": "iPTMnet", "id": "Q6VV64", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6VV64" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of interaction with YWHAH. No effect on channel conductance.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "18397886", "url": "https://glygen.org/publication/PubMed/18397886" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Further decreases the open probability of the channel, without affecting the single channel conductance; when associated with E-276.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "14981085", "url": "https://glygen.org/publication/PubMed/14981085" }, { "database": "iPTMnet", "id": "Q6VV64", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6VV64" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Increases the open probability of the channel, without affecting the single channel conductance. Confers resistance to stimulation by calcineurin. Mice carrying the mutant allele display increased Treg numbers in thymus and spleen.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "14981085", "url": "https://glygen.org/publication/PubMed/14981085" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" }, { "database": "PubMed", "id": "34702947", "url": "https://glygen.org/publication/PubMed/34702947" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Decreases the open probability of the channel, without affecting the single channel conductance.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Gly131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Acts as a dominant negative on wild-type KCNK18 or KCNK10 subunits.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "32641496", "url": "https://glygen.org/publication/PubMed/32641496" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "132", "end_pos": "132", "site_lbl": "His132", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Insensitive to extracellular protons.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "17962323", "url": "https://glygen.org/publication/PubMed/17962323" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ile212", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of interaction with calcineurin and activation by elevated intracellular calcium; when associated with A-214.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "16569637", "url": "https://glygen.org/publication/PubMed/16569637" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ile214", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Strongly reduced activation by elevated intracellular Ca(2+). Loss of interaction with calcineurin and activation by elevated intracellular Ca(2+); when associated with A-212.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "16569637", "url": "https://glygen.org/publication/PubMed/16569637" } ] } ] }, { "uniprot_canonical_ac": "Q6VV64-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Gly339", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Loss of channel conductance. In DRG sensory neurons, results in decreased rheobase current, decreased action potential duration and amplitude upon hyperpolarization and increased sensitivity to depolarizing stimuli, but has no effect on resting membrane potential. Mice carrying the mutant allele display impaired thymic Treg development and increased susceptibility to autoimmune encephalomyelitis.", "evidence": [ { "database": "UniProtKB", "id": "Q6VV64", "url": "https://www.uniprot.org/uniprotkb/Q6VV64" }, { "database": "PubMed", "id": "17962323", "url": "https://glygen.org/publication/PubMed/17962323" }, { "database": "PubMed", "id": "34702947", "url": "https://glygen.org/publication/PubMed/34702947" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8R071-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 459, "chemical_mass": 50935.0, "gene_names": "Itpka;Itpka", "protein_name": "Inositol-trisphosphate 3-kinase A", "disease": [], "biological_process": [ { "name": "inositol metabolic process", "id": "GO:0006020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006020", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "modification of postsynaptic actin cytoskeleton", "id": "GO:0098885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098885", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine morphogenesis", "id": "GO:0061003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061003", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "dendritic spine maintenance", "id": "GO:0097062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097062", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "inositol phosphate biosynthetic process", "id": "GO:0032958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" } ], "molecular_function": [ { "name": "inositol hexakisphosphate kinase activity", "id": "GO:0000828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000828", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "inositol-1,4,5-trisphosphate 3-kinase activity", "id": "GO:0008440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008440", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" }, { "name": "calcium/calmodulin-dependent protein kinase activity", "id": "GO:0004683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004683", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R071-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 349, "start_aa": "Ser", "end_pos": 349, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser349", "evidence": [ { "id": "36084651", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36084651" }, { "id": "Q8R071", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8R071" }, { "id": "Q8R071", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8R071" } ] } ] }, { "uniprot_canonical_ac": "Q8R071-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R071" } ] } ] }, { "uniprot_canonical_ac": "Q8R071-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R071", "url": "https://www.uniprot.org/uniprotkb/Q8R071" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8R0A7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0A7", "url": "https://www.uniprot.org/uniprotkb/Q8R0A7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 407, "chemical_mass": 46318.0, "gene_names": "6430548M08Rik;Kiaa0513;6430548M08Rik;Kiaa0513;mKIAA0513", "protein_name": "Uncharacterized protein KIAA0513", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0A7-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0A7", "url": "https://www.uniprot.org/uniprotkb/Q8R0A7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R0A7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R0A7" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9EQF4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EQF4", "url": "https://www.uniprot.org/uniprotkb/Q9EQF4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 244, "chemical_mass": 28203.0, "gene_names": "Izumo1r;0910001L11Rik;Folbp3;Folr4;Izumo1r;Juno", "protein_name": "Sperm-egg fusion protein Juno", "disease": [], "biological_process": [ { "name": "sperm-egg recognition", "id": "GO:0035036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035036", "evidence": [ { "database": 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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: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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "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: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": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "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: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 } ], "biological_process": [ { "name": "positive regulation of myotube differentiation", "id": "GO:0010831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010831", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "craniofacial suture morphogenesis", "id": "GO:0097094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097094", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of macrophage migration", "id": "GO:1905523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905523", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cellular response to genistein", "id": "GO:0071412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071412", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "positive regulation of B cell differentiation", "id": "GO:0045579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045579", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "chondrocyte proliferation", "id": "GO:0035988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035988", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "GDF15-GFRAL signaling pathway", "id": "GO:0160144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160144", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "negative regulation of GDF15-GFRAL signaling pathway", "id": "GO:0160145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160145", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "tube morphogenesis", "id": "GO:0035239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035239", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P53690", "url": "https://www.uniprot.org/uniprotkb/P53690" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": 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"https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "insulin-responsive compartment", "id": "GO:0032593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032593", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" } ], "biological_process": [ { "name": "atrioventricular valve development", "id": "GO:0003171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003171", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation 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"https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "astrocyte activation involved in immune response", "id": "GO:0002265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002265", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "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": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "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": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "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": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell migration", "id": "GO:0014912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014912", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q91ZX7", "url": "https://www.uniprot.org/uniprotkb/Q91ZX7" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { 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"id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "skeletal muscle acetylcholine-gated channel clustering", "id": "GO:0071340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071340", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "presynaptic membrane assembly", "id": "GO:0097105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097105", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8VI56", "url": "https://www.uniprot.org/uniprotkb/Q8VI56" } ], 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"database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1033, "chemical_mass": 118275.0, "gene_names": "Nlrp3;AGTAVPRL;AII/AVP;Cias1;FCAS;FCU;MWS;Mmig1;NALP3;Nalp3;Nlrp3;Pypaf1", "protein_name": "NACHT, LRR and PYD domains-containing protein 3", "disease": [ { "disease_id": "DOID:0050854", "name": "Muckle-Wells syndrome", "description": "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.", "url": "https://disease-ontology.org/term/DOID:0050854", "evidence": [ { "id": "0050854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050854" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver 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"https://www.alliancegenome.org/disease/DOID:0090062" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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": 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"UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell differentiation", "id": "GO:2000321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000321", "evidence": [ { "database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "osmosensory signaling pathway", "id": "GO:0007231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007231", "evidence": [ { "database": "UniProtKB", "id": "Q8R4B8", "url": "https://www.uniprot.org/uniprotkb/Q8R4B8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { 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The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "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: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). 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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. 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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: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: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: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: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: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": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "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:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "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": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "aflatoxin catabolic process", "id": "GO:0046223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046223", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of hematopoietic stem cell differentiation", "id": "GO:1902037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902037", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of glutathione biosynthetic process", "id": "GO:1903788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903788", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "PERK-mediated unfolded protein response", "id": "GO:0036499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036499", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to laminar fluid shear stress", "id": "GO:0071499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071499", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "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": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of cellular response to hypoxia", "id": "GO:1900038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900038", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to fluid shear stress", "id": "GO:0071498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071498", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of removal of superoxide radicals", "id": "GO:2000121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000121", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell migration", "id": "GO:1904753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904753", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "response to sodium arsenite", "id": "GO:1903935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903935", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "proteasomal ubiquitin-independent protein catabolic process", "id": "GO:0010499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010499", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60795", "url": "https://www.uniprot.org/uniprotkb/Q60795" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", 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"database": "iPTMnet", "id": "Q9JMH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JMH7" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Gly109", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463397", "evidence": [ { "id": "rs31525352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31525352" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472704", "evidence": [ { "id": "rs3388887354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388887354" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ala123", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463355", "evidence": [ { "id": "rs3388911214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911214" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Leu129", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463337", "evidence": [ { "id": "rs3388906908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906908" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Arg155", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463258", "evidence": [ { "id": "rs212351142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212351142" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Val161", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463241", "evidence": [ { "id": "rs3388930133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930133" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "170", "end_pos": "170", "site_lbl": "His170", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463214", "evidence": [ { "id": "rs37274829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37274829" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Leu174", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463201", "evidence": [ { "id": "rs3388929613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929613" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463172", "evidence": [ { "id": "rs3388886144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886144" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Arg185", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463169", "evidence": [ { "id": "rs256747239", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256747239" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Pro196", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463136", "evidence": [ { "id": "rs225356955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225356955" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Gln19", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472679", "evidence": [ { "id": "rs3388933626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388933626" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472677", "evidence": [ { "id": "rs3388886127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886127" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Val22", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472672", "evidence": [ { "id": "rs51932334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51932334" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ala230", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463033", "evidence": [ { "id": "rs3388921646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921646" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Thr244", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462991", "evidence": [ { "id": "rs3388926620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926620" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462960", "evidence": [ { "id": "rs3388927748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927748" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Ser257", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462952", "evidence": [ { "id": "rs3388911203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911203" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Gly259", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462947", "evidence": [ { "id": "rs245421879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245421879" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Arg25", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472662", "evidence": [ { "id": "rs3388915398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915398" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Leu270", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462914", "evidence": [ { "id": "rs3388929681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929681" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Val282", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462878", "evidence": [ { "id": "rs3388930144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930144" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Thr292", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462847", "evidence": [ { "id": "rs265972837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265972837" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Gln294", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462841", "evidence": [ { "id": "rs3388901174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388901174" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asp295", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462610", "evidence": [ { "id": "rs3388927729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927729" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Leu29", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472651", "evidence": [ { "id": "rs3388930987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930987" } ] }, { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472650", "evidence": [ { "id": "rs3388930101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930101" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Glu2", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463489", "evidence": [ { "id": "rs3398493702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398493702" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Cys307", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462802", "evidence": [ { "id": "rs247219151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247219151" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Pro313", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462785", "evidence": [ { "id": "rs229105043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229105043" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Tyr31", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472643", "evidence": [ { "id": "rs3388929691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929691" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ala325", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462748", "evidence": [ { "id": "rs261458572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261458572" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462722", "evidence": [ { "id": "rs219270788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219270788" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ile340", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462703", "evidence": [ { "id": "rs3388930097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930097" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Asp371", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462610", "evidence": [ { "id": "rs3388927729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927729" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Val381", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462580", "evidence": [ { "id": "rs3388926679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926679" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Pro415", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99462478", "evidence": [ { "id": "rs3388926222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926222" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Arg45", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472602", "evidence": [ { "id": "rs3388926250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926250" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Val48", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472594", "evidence": [ { "id": "rs36397668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36397668" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Arg60", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472557", "evidence": [ { "id": "rs38546553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38546553" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Gly61", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99472554", "evidence": [ { "id": "rs3388929669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388929669" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Trp70", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463512", "evidence": [ { "id": "rs3398493692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398493692" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Pro72", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463507", "evidence": [ { "id": "rs3398250318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398250318" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH7-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Gln73", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "99463503", "evidence": [ { "id": "rs3398391664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398391664" } ] } ] }, { 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q921N8-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 160, "start_aa": "Thr", "end_pos": 160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr160", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q921N8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921N8" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "11", "chr_pos": 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"name": "alopecia universalis", "description": "An alopecia characterized by the complete loss of hair on the scalp and body.", "url": "https://disease-ontology.org/term/DOID:0050634", "evidence": [ { "id": "0050634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050634" } ], "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": "DOID:0060061", "name": "primary cutaneous T-cell non-Hodgkin lymphoma", "description": "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.", "url": "https://disease-ontology.org/term/DOID:0060061", "evidence": [ { "id": "0060061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:1003", "name": "pelvic inflammatory disease", "description": "A female reproductive system disease that is characterized by an infection of the female reproductive organs.", "url": "https://disease-ontology.org/term/DOID:1003", "evidence": [ { "id": "1003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1003" } ], "weight": 0.0 }, { "disease_id": "DOID:10113", "name": "trypanosomiasis", "description": "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.", "url": "https://disease-ontology.org/term/DOID:10113", "evidence": [ { "id": "10113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10113" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "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 and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "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:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "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:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "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: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:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "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: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: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:2772", "name": "irritant dermatitis", "description": "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation.", "url": "https://disease-ontology.org/term/DOID:2772", "evidence": [ { "id": "2772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2772" } ], "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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "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: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:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "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: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:9790", "name": "toxocariasis", "description": "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions.", "url": "https://disease-ontology.org/term/DOID:9790", "evidence": [ { "id": "9790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9790" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cellular response to transforming growth factor beta stimulus", "id": "GO:1903845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903845", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of chronic inflammatory response", "id": "GO:0002677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002677", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell migration", "id": "GO:0010633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010633", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of interleukin-13 production", "id": "GO:0032736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032736", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "interleukin-4-mediated signaling pathway", "id": "GO:0035771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035771", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "P07750", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "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": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": 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"" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of mast cell degranulation", "id": "GO:0043306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043306", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { 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"P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "T-helper 2 cell differentiation", "id": "GO:0045064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045064", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgG isotypes", "id": "GO:0048304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048304", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of B cell activation", "id": "GO:0050871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050871", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050868", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of eosinophil chemotaxis", "id": "GO:2000424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000424", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of T-helper 2 cell cytokine production", "id": "GO:2000553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000553", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cellular respiration", "id": "GO:1901857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901857", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "B cell costimulation", "id": "GO:0031296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031296", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgE isotypes", "id": "GO:0048295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048295", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "positive regulation of B cell chemotaxis", "id": "GO:2000538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000538", "evidence": [ { "database": "UniProtKB", "id": "P07750", "url": "https://www.uniprot.org/uniprotkb/P07750" } ], "pmid": "" }, { "name": "negative regulation of complement-dependent cytotoxicity", "id": "GO:1903660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903660", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.alliancegenome.org/disease/DOID:1852" } ], "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: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": 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"https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "nuclear receptor-mediated bile acid signaling pathway", "id": "GO:0038185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038185", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of phosphatidic acid biosynthetic process", "id": "GO:1905695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905695", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of ammonia assimilation cycle", "id": "GO:2001250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001250", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of carbohydrate metabolic process", "id": "GO:0006109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006109", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cell-cell junction assembly", "id": "GO:0007043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007043", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of very-low-density lipoprotein particle remodeling", "id": "GO:0010903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010903", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of monocyte chemotactic protein-1 production", "id": "GO:0071638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071638", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0061178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061178", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:0010804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010804", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 production", "id": "GO:0032692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032692", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of triglyceride biosynthetic process", "id": "GO:0010868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010868", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "response to norepinephrine", "id": "GO:0071873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071873", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "toll-like receptor 9 signaling pathway", "id": "GO:0034162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034162", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "intracellular triglyceride homeostasis", "id": "GO:0035356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035356", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of low-density lipoprotein particle clearance", "id": "GO:0010988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010988", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "urea metabolic process", "id": "GO:0019627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019627", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "cellular response to bile acid", "id": "GO:1903413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903413", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "regulation of glutamate metabolic process", "id": "GO:2000211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000211", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" } ], "molecular_function": [ { "name": "chenodeoxycholic acid binding", "id": "GO:1902122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902122", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "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": "Q60641", "url": "https://www.uniprot.org/uniprotkb/Q60641" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK 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"pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of microglial cell activation", "id": "GO:1903978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903978", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter secretion", "id": "GO:0001956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001956", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of ceramide biosynthetic process", "id": "GO:2000303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000303", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": "https://www.uniprot.org/uniprotkb/Q8CI15" } ], "pmid": "" }, { "name": "regulation of transport", "id": "GO:0051049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051049", "evidence": [ { "database": "UniProtKB", "id": "Q8CI15", "url": 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"pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "CCR4-NOT complex binding", "id": "GO:1905762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905762", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GVGLNSTTQSVLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "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": "Q4VGL6-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Thr873", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 873, "start_aa": "Thr", "end_pos": 873, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr873", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q4VGL6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Ser875", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 875, "start_aa": "Ser", "end_pos": 875, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser875", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q4VGL6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Ser1107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Ser1110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ser531", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Ser535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4VGL6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Ser861", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Cys14", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on localization to stress granules.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "20412057", "url": "https://glygen.org/publication/PubMed/20412057" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Arg188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Met199", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "In sanroque; partial loss of ICOS regulation, no effect on localization to stress granules, no effect on RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "15917799", "url": "https://glygen.org/publication/PubMed/15917799" }, { "database": "PubMed", "id": "20412057", "url": "https://glygen.org/publication/PubMed/20412057" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "31636267", "url": "https://glygen.org/publication/PubMed/31636267" }, { "database": "PubMed", "id": "25697406", "url": "https://glygen.org/publication/PubMed/25697406" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Arg219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Lys220", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding. Increases target-mRNA expression. Increases ICOS surface expression; when associated with A-239 and A-260.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Arg229", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Arg233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ser238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Lys239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding. Increases target-mRNA expression. Abolishes CDERNA-binding and highly increases target-mRNA expression; when associated with A-260. Increases target-mRNA expression. Increases ICOS surface expression; when associated with A-220 and A-260.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Tyr250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases CDERNA-binding. Increases target-mRNA expression.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Arg251", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly decreases CDE and ADERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Lys259", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Arg260", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases CDE and ADERNA-binding. Increases target-mRNA expression. Abolishes CDERNA-binding and highly increases target-mRNA expression; when associated with A-239. Increases target-mRNA expression. Increases ICOS surface expression; when associated with A-220 and A-239.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Decreases CDE and ADERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "27010430", "url": "https://glygen.org/publication/PubMed/27010430" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Glu293", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Lys314", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on CDERNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25026077", "url": "https://glygen.org/publication/PubMed/25026077" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Cys419", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "No effect on RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "23663784", "url": "https://glygen.org/publication/PubMed/23663784" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Cys434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "No effect on localization to stress granules, reduces RNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Arg488", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Arg510", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes the formation of a preferential cleavage product. Abolishes protein cleavage; when associated with G-579.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Arg560", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "No effect on cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] }, { "uniprot_canonical_ac": "Q4VGL6-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Arg579", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Abolishes the formation of an alternative cleavage product. Abolishes protein cleavage; when associated with G-510.", "evidence": [ { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprotkb/Q4VGL6" }, { "database": "PubMed", "id": "25282160", "url": "https://glygen.org/publication/PubMed/25282160" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q61206-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 229, "chemical_mass": 25581.0, "gene_names": "Pafah1b2;2610005M20Rik;Pafah1b2;Pafahb;mus[b]", "protein_name": "Platelet-activating factor acetylhydrolase IB subunit alpha2", "disease": [ { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "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 } ], "molecular_function": [ { "name": "platelet-activating factor acetyltransferase activity", "id": "GO:0047179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047179", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "protein 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], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "1-alkyl-2-acetylglycerophosphocholine esterase complex", "id": "GO:0008247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008247", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61206-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Thr220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61206" } ] } ] }, { "uniprot_canonical_ac": "Q61206-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" } ] } ] }, { "uniprot_canonical_ac": "Q61206-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61206", "url": "https://www.uniprot.org/uniprotkb/Q61206" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61206", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61206" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9CQH0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 12298.0, "gene_names": "Pdzk1ip1;0610007F13Rik;2700030M23Rik;Map17;Pdzk1ip1", "protein_name": "PDZK1-interacting protein 1", "disease": [], "cellular_component": [ { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "pmid": "" }, { "name": "transmembrane transporter complex", "id": "GO:1902495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902495", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "pmid": "" } ], "biological_process": [ { "name": "D-glucose import across plasma membrane", "id": "GO:0098708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098708", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQH0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQH0", "url": "https://www.uniprot.org/uniprotkb/Q9CQH0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQH0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQH0" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "O88502-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 823, "chemical_mass": 93171.0, "gene_names": "Pde8a;Pde8a;Pde8", "protein_name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "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": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "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": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "O88502", "url": "https://www.uniprot.org/uniprotkb/O88502" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "early endosome lumen", "id": "GO:0031905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031905", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P70271", "url": "https://www.uniprot.org/uniprotkb/P70271" } ], "pmid": "" }, { "name": "metal ion 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060940", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of myofibroblast differentiation", "id": "GO:1904761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904761", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell differentiation", "id": "GO:1905064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905064", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "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": "Q61823", "url": "https://www.uniprot.org/uniprotkb/Q61823" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q61823", "url": 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"https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": 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"GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "monoatomic anion channel activity", "id": "GO:0005253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005253", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q8R2Z3", "url": "https://www.uniprot.org/uniprotkb/Q8R2Z3" } ], "pmid": "" }, { "name": "oxalate 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "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:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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:3078", "name": "anaplastic astrocytoma", "description": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.", "url": "https://disease-ontology.org/term/DOID:3078", "evidence": [ { "id": "3078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3078" } ], "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:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "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: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: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:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4927", "name": "Klatskin's tumor", "description": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.", "url": "https://disease-ontology.org/term/DOID:4927", "evidence": [ { "id": "4927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4927" } ], "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:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:6726", "name": "fibrillary astrocytoma", "description": "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.", "url": "https://disease-ontology.org/term/DOID:6726", "evidence": [ { "id": "6726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6726" } ], "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:7235", "name": "pancreatic mucinous cystadenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7235", "evidence": [ { "id": "7235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7235" } ], "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: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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "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 } ], "cellular_component": [ { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "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": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "response to isolation stress", "id": "GO:0035900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035900", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "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": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "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": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "response to mineralocorticoid", "id": "GO:0051385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051385", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "P32883", "url": "https://www.uniprot.org/uniprotkb/P32883" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", 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"" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P84078", "url": "https://www.uniprot.org/uniprotkb/P84078" } ], "pmid": "" }, { "name": "phospholipase D 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"site_lbl": "Glu297", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25805952", "evidence": [ { "id": "rs3389426701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389426701" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Pro30", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25924345", "evidence": [ { "id": "rs236469791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236469791" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ala355", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25803702", "evidence": [ { "id": "rs221954419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221954419" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Gly419", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25799937", "evidence": [ { "id": "rs3389400755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389400755" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ile430", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25799904", "evidence": [ { "id": "rs245843401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245843401" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Val448", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791123", "evidence": [ { "id": "rs3508088251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508088251" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Val465", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791072", "evidence": [ { "id": "rs3389370452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389370452" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Arg472", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791050", "evidence": [ { "id": "rs255673521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255673521" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Asn479", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25791029", "evidence": [ { "id": "rs32485836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32485836" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Asp486", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790428_25790429insCACTACCTCAACCAT", "evidence": [ { "id": "rs3389406594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389406594" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Tyr488", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790424", "evidence": [ { "id": "rs3389378027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389378027" } ] }, { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790423", "evidence": [ { "id": "rs3389370492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389370492" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Arg489", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790420", "evidence": [ { "id": "rs3389410003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389410003" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Pro497", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25790396", "evidence": [ { "id": "rs3389416202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389416202" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Lys532", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789670", "evidence": [ { "id": "rs3389400764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389400764" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Val537", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789657", "evidence": [ { "id": "rs3389404924", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404924" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Phe549", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789620", "evidence": [ { "id": "rs3389407739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389407739" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Tyr551", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789614", "evidence": [ { "id": "rs3389416265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389416265" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25789584", "evidence": [ { "id": "rs32484948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32484948" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Ser571", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25788744", "evidence": [ { "id": "rs3389325328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389325328" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Asp611", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25787524", "evidence": [ { "id": "rs250155713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250155713" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Gly613", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25787520", "evidence": [ { "id": "rs3389404900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404900" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ile629", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25784607", "evidence": [ { "id": "rs3389419293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389419293" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Asp667", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25784494", "evidence": [ { "id": "rs3389419283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389419283" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Gly691", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25779149", "evidence": [ { "id": "rs215792014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215792014" } ] } ] }, { "uniprot_canonical_ac": "Q8CG71-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Arg74", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "16", "chr_pos": "25924214", "evidence": [ { "id": "rs3552223527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552223527" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8VDG3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 624, "chemical_mass": 71559.0, "gene_names": "Parn;1200003I18Rik;DAN;Parn", "protein_name": "Poly(A)-specific ribonuclease PARN", "disease": [ { "disease_id": "DOID:0070024", "name": "autosomal recessive dyskeratosis congenita 6", "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.", "url": "https://disease-ontology.org/term/DOID:0070024", "evidence": [ { "id": "0070024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070024" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "telomerase RNA binding", "id": "GO:0070034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070034", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "cation binding", "id": "GO:0043169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043169", "evidence": [ { "database": "UniProtKB", "id": "Q8VDG3", "url": "https://www.uniprot.org/uniprotkb/Q8VDG3" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": 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"database": "PubMed", "id": "10413086", "url": "https://glygen.org/publication/PubMed/10413086" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P11416-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 462, "chemical_mass": 50735.0, "gene_names": "Rara;Nr1b1;RARalpha1;RAR;Rara", "protein_name": "Retinoic acid receptor alpha", "disease": [ { "disease_id": "DOID:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } 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"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": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" 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"https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": 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Small loss in transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "17205979", "url": "https://glygen.org/publication/PubMed/17205979" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Greatly reduced interaction with RXRA and NCOR1 and transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "17205979", "url": "https://glygen.org/publication/PubMed/17205979" } ] } ] }, { "uniprot_canonical_ac": "P11416-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Ser449", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in phosphorylation levels and no effect on transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "9230306", "url": "https://glygen.org/publication/PubMed/9230306" } ] } ] }, { "uniprot_canonical_ac": "P11416-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Ser456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in phosphorylation levels and no effect on transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": "9230306", "url": "https://glygen.org/publication/PubMed/9230306" } ] } ] }, { "uniprot_canonical_ac": "P11416-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in phosphorylation levels and no effect on transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "P11416", "url": "https://www.uniprot.org/uniprotkb/P11416" }, { "database": "PubMed", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "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": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "P49722", "url": "https://www.uniprot.org/uniprotkb/P49722" } ], "pmid": "" }, { "name": "regulation of proteasomal protein 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Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1866; R-1873; R-1887; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1866; S-1873; S-1887; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1866; S-1873; S-1887; S-1908; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1866; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1866", "end_pos": "1866", "site_lbl": "Lys1866", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1873; R-1887; R-1908 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1859; R-1859; R-1873; R-1887; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1873; S-1887; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1873; S-1887; S-1908; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1873", "end_pos": "1873", "site_lbl": "Lys1873", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1887; R-1908 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1887; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1887; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1887", "end_pos": "1887", "site_lbl": "Lys1887", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1873; R-1908 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1873; R-1908; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1908; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1908; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1866; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1908", "end_pos": "1908", "site_lbl": "Lys1908", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1873; R-1887 and R-1922. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R.1838; R-1859; R-1866; R-1873; R-1887; R-1922 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1887; S-1922 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1887; S-1922 and S-1936. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1866; S-1887 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1922", "end_pos": "1922", "site_lbl": "Lys1922", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination, no effect on interaction with WWP2; when associated with R-1859; R-1866; R-1873; R-1887 and R-1908. Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1873; R-1887; R-1908 and R-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" }, { "database": "PubMed", "id": "17526739", "url": "https://glygen.org/publication/PubMed/17526739" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1887; S-1908 and S-1936. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1887; S-1908 and S-1936.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] }, { "uniprot_canonical_ac": "P08775-1", "start_pos": "1936", "end_pos": "1936", "site_lbl": "Lys1936", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of acetylation and loss of regulation of growth-factor-induced gene expression; when associated with R-1838; R-1859; R-1866; R-1873; R-1887; R-1908 and R-1922.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "24207025", "url": "https://glygen.org/publication/PubMed/24207025" } ] }, { "sequence_org": "K", "sequence_mut": "S", "comment": "Loss of methylation and dimethylation but no effect on phosphorylation; when associated with S-1838; S-1859; S-1866; S-1873; S-1887; S-1908 and S-1922. Highly decreases methylation and dimethylation; when associated with S-1859; S-1866; S-1873; S-1887; S-1908 and S-1922. Decreases methylation but no effect on dimethylation; when associated with S-1859; S-1866 and S-1887.", "evidence": [ { "database": "UniProtKB", "id": "P08775", "url": "https://www.uniprot.org/uniprotkb/P08775" }, { "database": "PubMed", "id": "26687004", "url": "https://glygen.org/publication/PubMed/26687004" } ] } ] } ], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q8JZS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 23953.0, "gene_names": "Mrpl48;1810030E20Rik;2610028L11Rik;CGI-118;D4Ertd786e;L48mt;MRP-L48;Mrpl48", "protein_name": "Large ribosomal subunit protein mL48", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8JZS9", "url": "https://www.uniprot.org/uniprotkb/Q8JZS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "Q9DCV4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 35000.0, "gene_names": "Rmdn1;Fam82b;RMD-1;Rmdn1", "protein_name": "Regulator of microtubule dynamics protein 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "spindle microtubule", "id": "GO:0005876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005876", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9DCV4", "url": "https://www.uniprot.org/uniprotkb/Q9DCV4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "E9QAU8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 347, "chemical_mass": 39736.0, "gene_names": "Ark2c;2900024M11Rik;Akd2;Ark2c;G630064H08Rik;Gm96;Rnf165", "protein_name": "E3 ubiquitin-protein ligase ARK2C", "disease": [], "biological_process": [ { "name": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "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": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "E9QAU8", "url": "https://www.uniprot.org/uniprotkb/E9QAU8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.4" }, { "uniprot_canonical_ac": "P49312-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P49312", "url": "https://www.uniprot.org/uniprotkb/P49312" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 34196.0, "gene_names": "Hnrnpa1;Fli-2;HDP-1;Hdp;Hnrnpa1;Hnrpa1;Tis;hnRNP A1;hnrnp-A1", "protein_name": "Heterogeneous nuclear ribonucleoprotein A1", 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