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}, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Gln407", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382220", "evidence": [ { "id": "rs3388596041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596041" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Leu411", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382208", "evidence": [ { "id": "rs1132428427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132428427" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Lys462", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132378624", "evidence": [ { "id": "rs3388597949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597949" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Thr478", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132377390", "evidence": [ { "id": "rs3392150487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392150487" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Phe480", "weight": 0.0, "snv": [ { "sequence_org": "F", 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132679485" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Phe552", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376639", "evidence": [ { "id": "rs1133412819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133412819" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376640", "evidence": [ { "id": "rs1133753193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133753193" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ile558", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376622", "evidence": [ { "id": "rs3388594328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594328" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Lys602", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376028", "evidence": [ { "id": "rs13464960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13464960" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Gln629", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372616", "evidence": [ { "id": "rs3388596006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596006" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Glu631", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372609", "evidence": [ { "id": "rs3388594074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594074" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372556", "evidence": [ { "id": "rs3388594809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594809" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Asp661", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372519", "evidence": [ { "id": "rs3392294068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392294068" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Gly668", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372499", "evidence": [ { "id": "rs3388594403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594403" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Glu9", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132414128", "evidence": [ { "id": "rs3412992119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412992119" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "O08917-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 428, "chemical_mass": 47513.0, "gene_names": "Flot1;Flot1;reggie-2", "protein_name": "Flotillin-1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": 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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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "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:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. 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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: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: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:8725", "name": "vascular dementia", "description": "A 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metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", 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"evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" } ], "biological_process": [ { "name": "organ induction", "id": "GO:0001759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of phosphate transport", "id": "GO:0010966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010966", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of phosphorus metabolic process", "id": "GO:0051174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051174", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway", "id": "GO:0090080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090080", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "diphosphate metabolic process", "id": "GO:0071344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071344", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" } ], "cellular_component": [ { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P35922-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 614, "chemical_mass": 68890.0, "gene_names": "Fmr1;FMRP;Fmr-1;Fmr1", "protein_name": "Fragile X messenger ribonucleoprotein 1", "disease": [ { "disease_id": "DOID:0050879", "name": "fragile X-associated tremor/ataxia syndrome", "description": "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.", "url": "https://disease-ontology.org/term/DOID:0050879", "evidence": [ { "id": "0050879", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050879" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "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 }, { "disease_id": "DOID:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060475", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ], "weight": 0.0 }, { "disease_id": "DOID:0080857", "name": "primary ovarian insufficiency 1", "description": "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).", "url": "https://disease-ontology.org/term/DOID:0080857", "evidence": [ { "id": "0080857", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080857" } ], "weight": 0.0 }, { "disease_id": "DOID:14261", "name": "fragile X syndrome", "description": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.", "url": "https://disease-ontology.org/term/DOID:14261", "evidence": [ { "id": "14261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14261" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of synaptic vesicle exocytosis", "id": "GO:2000301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000301", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "deadenylation-dependent decapping of nuclear-transcribed mRNA", "id": "GO:0000290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000290", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of miRNA-mediated gene silencing", "id": "GO:0060965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060965", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "excitatory chemical synaptic transmission", "id": "GO:0098976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098976", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "evoked excitatory postsynaptic potential", "id": "GO:0098817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098817", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic depression", "id": "GO:1900453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900453", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "miRNA-mediated post-transcriptional gene silencing", "id": "GO:0035195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035195", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of miRNA-mediated gene silencing", "id": "GO:2000637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000637", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of dendritic spine development", "id": "GO:0060998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060998", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of voltage-gated calcium channel activity", "id": "GO:1901386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901386", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic plasticity", "id": "GO:0048170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048170", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic depression", "id": "GO:1900454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic translation", "id": "GO:2000766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000766", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "glutamate receptor signaling pathway", "id": "GO:0007215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007215", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "host-mediated perturbation of viral RNA 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"P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine neck", "id": "GO:0044326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044326", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine head", "id": "GO:0044327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044327", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "perisynaptic space", "id": "GO:0099544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099544", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine cytoplasm", "id": "GO:0061846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061846", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"rs3388997137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388997137" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129086102", "evidence": [ { "id": "rs3389023206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023206" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Gly241", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129158435", "evidence": [ { "id": "rs3388997155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388997155" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Phe247", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129158453", "evidence": [ { "id": "rs3389027154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027154" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ile253", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129158471", "evidence": [ { "id": "rs3389029296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389029296" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129160722", "evidence": [ { "id": "rs13474420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13474420" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Asn313", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129160812", "evidence": [ { "id": "rs3389027125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027125" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Gly331", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184348", "evidence": [ { "id": "rs3399735396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399735396" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Leu332", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184351", "evidence": [ { "id": "rs3399799368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399799368" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Val339", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184371", "evidence": [ { "id": "rs3389015780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015780" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Thr341", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184378", "evidence": [ { "id": "rs32166907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32166907" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Lys347", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184396", "evidence": [ { "id": "rs3389019995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019995" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Lys373", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184473", "evidence": [ { "id": "rs3389020846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020846" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asp389", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187121", "evidence": [ { "id": "rs3388971552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971552" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Val390", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187123", "evidence": [ { "id": "rs3388971519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971519" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129089745", "evidence": [ { "id": "rs3389009818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009818" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ile415", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187198", "evidence": [ { "id": "rs3389002410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002410" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Cys424", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187226", "evidence": [ { "id": "rs3389023360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023360" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Ile426", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187232", "evidence": [ { "id": "rs3389009823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009823" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Thr466", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194941", "evidence": [ { "id": "rs3400008932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400008932" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Gly470", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194954", "evidence": [ { "id": "rs3399736660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399736660" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ala472", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194959", "evidence": [ { "id": "rs3399836108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399836108" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Pro477", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194975", "evidence": [ { "id": "rs212448468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212448468" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Thr481", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194987", "evidence": [ { "id": "rs232880389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232880389" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ile517", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129195095", "evidence": [ { "id": "rs3389020824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020824" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ile529", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129195130", "evidence": [ { "id": "rs234203076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234203076" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Phe561", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129202698", "evidence": [ { "id": "rs3389002424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002424" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Cys583", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129202764", "evidence": [ { "id": "rs3389016333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016333" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ile58", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129089798", "evidence": [ { "id": "rs3389015800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015800" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ala590", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129207374", "evidence": [ { "id": "rs3388971486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971486" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Asn596", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129207394", "evidence": [ { "id": "rs3389009760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009760" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Cys610", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129207435", "evidence": [ { "id": "rs3388971501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971501" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Asp825", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129227145", "evidence": [ { "id": "rs3547048827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547048827" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Ala873", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229141", "evidence": [ { "id": "rs3389027141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027141" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Cys875", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229148", "evidence": [ { "id": "rs3389002413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002413" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Trp884", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229173_129229174insA", "evidence": [ { "id": "rs3399443684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399443684" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Asn886", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229181", "evidence": [ { "id": "rs3389002457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002457" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229180", "evidence": [ { "id": "rs3399800495", "database": "dbSNP", "url": 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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:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": "https://disease-ontology.org/term/DOID:10871", "evidence": [ { "id": "10871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10871" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:12574", "name": "posterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12574", "evidence": [ { "id": "12574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ], "weight": 0.0 }, { "disease_id": "DOID:12732", "name": "intermediate uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12732", "evidence": [ { "id": "12732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12732" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "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:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "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: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:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "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: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:823", "name": "periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:823", "evidence": [ { "id": "823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:823" } ], "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: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: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:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "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: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": "positive regulation of leukocyte tethering or rolling", "id": "GO:1903238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903238", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "wound healing involved in inflammatory response", "id": "GO:0002246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002246", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of T cell chemotaxis", "id": "GO:0010820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010820", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cellular homeostasis", "id": "GO:0019725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019725", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cellular defense response", "id": "GO:0006968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006968", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of T cell differentiation", "id": "GO:0045580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045580", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": 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"record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q60994-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 247, "chemical_mass": 26809.0, "gene_names": "Adipoq;30kDa;APN;Acdc;Acrp30;Adid;Adipoq;Ad;Apm1;GBP28;adipo;apM1", "protein_name": "Adiponectin", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050847", "name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": 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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 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1206", "name": "Rett syndrome", "description": "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.", "url": "https://disease-ontology.org/term/DOID:1206", "evidence": [ { "id": "1206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1206" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:178", "name": "vascular disease", "description": "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.", "url": "https://disease-ontology.org/term/DOID:178", "evidence": [ { "id": "178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:178" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "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: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:2755", "name": "Mycobacterium avium complex disease", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.", "url": "https://disease-ontology.org/term/DOID:2755", "evidence": [ { "id": "2755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2755" } ], "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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3362", "name": "coronary aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:3362", "evidence": [ { "id": "3362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3362" } ], "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: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: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "sialic acid binding", "id": "GO:0033691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033691", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of macrophage derived foam cell differentiation", "id": "GO:0010745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010745", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "adiponectin-activated signaling pathway", "id": "GO:0033211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033211", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of DNA biosynthetic process", "id": "GO:2000279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000279", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010642", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051900", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of ER to Golgi vesicle-mediated transport", "id": "GO:0060628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060628", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of SNARE complex assembly", "id": "GO:0035542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035542", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of microglial cell activation", "id": "GO:1903980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903980", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of dopamine receptor signaling pathway", "id": "GO:0060159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060159", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of protein targeting to mitochondrion", "id": "GO:1903215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903215", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum exit site", "id": "GO:0070973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070973", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of dopamine receptor signaling pathway", "id": "GO:0060161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060161", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of neuron maturation", "id": "GO:0014041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014041", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "tangential migration from the subventricular zone to the olfactory bulb", "id": "GO:0022028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022028", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of kidney size", "id": "GO:0035564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035564", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of lysosomal lumen pH", "id": "GO:0035751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035751", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron projection arborization", "id": "GO:0140058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140058", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of protein autoubiquitination", "id": "GO:1902499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902499", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle transport", "id": "GO:1902803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902803", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Wnt signalosome assembly", "id": "GO:1904887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904887", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of retrograde transport, endosome to Golgi", "id": "GO:1905279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905279", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of CAMKK-AMPK signaling cascade", "id": "GO:1905289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905289", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of branching morphogenesis of a nerve", "id": "GO:2000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000172", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to curcumin", "id": "GO:1904644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904644", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle", "id": "GO:0097487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097487", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytoplasmic side of mitochondrial outer membrane", "id": "GO:0032473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032473", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "amphisome", "id": "GO:0044753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044753", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "caveola neck", "id": "GO:0099400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099400", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": 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"https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { 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"GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of NMDA glutamate receptor activity", "id": "GO:1904782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904782", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "hydrogen peroxide metabolic process", "id": "GO:0042743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042743", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": 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], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "superoxide dismutase copper chaperone activity", "id": "GO:0016532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016532", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase inhibitor activity", "id": "GO:0055105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055105", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cuprous ion binding", "id": "GO:1903136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903136", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cupric ion binding", "id": "GO:1903135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903135", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": 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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398166577" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Cys116", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018510", "evidence": [ { "id": "rs3398137718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398137718" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Leu120", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018499", "evidence": [ { "id": "rs3398073313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398073313" } ] } ] }, { 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"comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80017130", "evidence": [ { "id": "rs3388908859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908859" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Met348", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80016770", "evidence": [ { "id": "rs3412824887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412824887" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ala34", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", 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0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018660", "evidence": [ { "id": "rs262613079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262613079" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Arg70", "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": "80018649", "evidence": [ { "id": "rs245636881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245636881" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Asp723", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: 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"id": "rs3388918143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918143" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Arg747", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80010750", "evidence": [ { "id": "rs3388914929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914929" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Glu790", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80009485", "evidence": [ { "id": "rs3388880215", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Glu83", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018609", "evidence": [ { "id": "rs242997782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242997782" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "856", "end_pos": "856", "site_lbl": "Arg856", "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": "80009045", "evidence": [ { "id": "rs3388921510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921510" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Asp869", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008769", "evidence": [ { "id": "rs3388917973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917973" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Arg877", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008747", "evidence": [ { "id": "rs3388880269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388880269" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Leu88", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018595", "evidence": [ { "id": "rs3388912548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388912548" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Gln906", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008660", "evidence": [ { "id": "rs3398134550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398134550" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Arg936", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008044", "evidence": [ { "id": "rs3388917954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917954" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Gly973", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006170", "evidence": [ { "id": "rs3388914938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914938" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006170", "evidence": [ { "id": "rs3388914938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914938" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Leu988", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006124", "evidence": [ { "id": "rs3388921080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921080" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "999", "end_pos": "999", "site_lbl": "Glu999", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006090", "evidence": [ { "id": "rs3388899886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899886" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006091", "evidence": [ { "id": "rs3388908871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908871" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "A2AGH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2190, "chemical_mass": 244561.0, "gene_names": "Med12;230kDa;Kiaa0192;Med12;Mopa;OPA-1;Tnrc11;Trap230", "protein_name": "Mediator of RNA polymerase II transcription subunit 12", "disease": [ { "disease_id": "DOID:0080985", "name": "syndromic X-linked intellectual disorder Lujan-Fryns-type", "description": "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.", "url": "https://disease-ontology.org/term/DOID:0080985", "evidence": [ { "id": "0080985", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080985" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:14711", "name": "FG syndrome", "description": "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:14711", "evidence": [ { "id": "14711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14711" } ], "weight": 0.0 }, { "disease_id": "DOID:1967", "name": "leiomyosarcoma", "description": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.", "url": "https://disease-ontology.org/term/DOID:1967", "evidence": [ { "id": "1967", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1967" } ], "weight": 0.0 }, { "disease_id": "DOID:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fusion", "id": "GO:0010636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010636", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to curcumin", "id": "GO:1904643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904643", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, glutamatergic", "id": "GO:0051967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of dopamine metabolic process", "id": "GO:0042053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042053", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902254", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrial fragmentation involved in apoptotic process", "id": "GO:0043653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043653", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to L-glutamine", "id": "GO:1904845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904845", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of 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"url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of actin filament bundle assembly", "id": "GO:0032232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032232", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K27-linked ubiquitination", "id": "GO:0044314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044314", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter uptake", "id": "GO:0051582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051582", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of protein linear polyubiquitination", "id": "GO:1902530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902530", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of exosomal secretion", "id": "GO:1903542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903542", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of intralumenal vesicle formation", "id": "GO:1905366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905366", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to L-glutamate", "id": "GO:1905232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905232", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fusion", "id": "GO:0010637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010637", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of spontaneous neurotransmitter secretion", "id": "GO:1904049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904049", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "host-mediated suppression of viral genome replication", "id": "GO:0044828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044828", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of glucokinase activity", "id": "GO:0033132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033132", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "dopamine uptake involved in synaptic transmission", "id": "GO:0051583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051583", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "aggresome assembly", "id": "GO:0070842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070842", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of protein localization to membrane", "id": "GO:1905477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905477", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": 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"response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of anatomical structure morphogenesis", "id": "GO:0022603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022603", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of catabolic process", "id": "GO:0009896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009896", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Parkin-FBXW7-Cul1 ubiquitin ligase complex", "id": "GO:1990452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990452", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion-derived vesicle", "id": "GO:0099073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099073", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", 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musculus [10090]" } ], "length": 478, "chemical_mass": 54058.0, "gene_names": "Abtb1;Abtb1;BPOZ;Bpoz;EF1ABP", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", 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"reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 54325.0, "gene_names": "Tom1;Tom1", "protein_name": "Target of Myb1 membrane trafficking protein", "disease": [ { "disease_id": "DOID:0061055", "name": "immunodeficiency 85", "description": "A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.", "url": "https://disease-ontology.org/term/DOID:0061055", "evidence": [ { "id": "0061055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061055" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-5-phosphate binding", "id": "GO:0010314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010314", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "polyubiquitin 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"https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell apoptotic process", "id": "GO:0034392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034392", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "formation of radial glial scaffolds", "id": "GO:0021943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021943", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:0090118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090118", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "mesodermal cell migration", "id": "GO:0008078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008078", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary development", "id": "GO:0030917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030917", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "axis elongation", "id": "GO:0003401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003401", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "negative regulation of non-canonical Wnt signaling pathway", "id": "GO:2000051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000051", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "forebrain generation of neurons", "id": "GO:0021872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021872", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "branching involved in mammary gland duct morphogenesis", "id": "GO:0060444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060444", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "establishment of blood-retinal barrier", "id": "GO:1990963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990963", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "mammary placode formation", "id": "GO:0060596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060596", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "external genitalia morphogenesis", "id": "GO:0035261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035261", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "axis elongation involved in somitogenesis", "id": "GO:0090245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090245", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "regulation of cell development", "id": "GO:0060284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060284", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Norrin signaling pathway", "id": "GO:0110135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110135", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor activity", "id": "GO:0005041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005041", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "kinase inhibitor activity", "id": "GO:0019210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019210", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": 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"id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process", "id": "GO:0045820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045820", "evidence": [ { "database": 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children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.", "url": "https://disease-ontology.org/term/DOID:0081013", "evidence": [ { "id": "0081013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081013" } ], "weight": 0.0 }, { "disease_id": "DOID:0112063", "name": "X-Linked immunodeficiency 74", "description": "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0112063", "evidence": [ { "id": "0112063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112063" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in 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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: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: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: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. 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"evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 36, "start_aa": "Ser", "end_pos": 36, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser36", "evidence": [ { "id": "Q8R138", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R138#ptm_processing" }, { "id": "26207632", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of glycosylation. No effect on osteoblast mineralization. Loss of glycosylation; when associated with A-43; A-54; A-60 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Thr54", "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": 54, "start_aa": "Thr", "end_pos": 54, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr54", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-43; A-60 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "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": 60, "start_aa": "Thr", "end_pos": 60, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr60", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-43; A-54 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-54; A-60 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-43; A-54 and A-60.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q8R3S2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 283, "chemical_mass": 31550.0, "gene_names": "Tspan33;1300010A20Rik;Pen;Tspan33", "protein_name": "Tetraspanin-33", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "tetraspanin-enriched microdomain", "id": "GO:0097197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097197", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3S2-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Asn172", "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": 172, "start_aa": "Asn", "end_pos": 172, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn172", "evidence": [ { "id": "Q8R3S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "Q9Z1T2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 963, "chemical_mass": 106366.0, "gene_names": "Thbs4;TSP4;Thbs4;Tsp4", "protein_name": "Thrombospondin-4", "disease": [], "biological_process": [ { "name": "endothelial cell-cell adhesion", "id": "GO:0071603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071603", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "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": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "negative regulation 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"id": "GO:0034103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034103", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "laminin-1 binding", "id": "GO:0043237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043237", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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"id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of AMPA receptor activity", "id": "GO:2000969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000969", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "modulation of chemical synaptic 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"end_pos": 399, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn399", "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": 399, "start_aa": "Asn", "end_pos": 399, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn399", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Asn509", "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": 509, "start_aa": "Asn", "end_pos": 509, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn509", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Ser420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "P10852", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Cys103", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690805", "evidence": [ { "id": "rs3406993299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406993299" } ] }, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690804", "evidence": [ { "id": "rs3409030911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409030911" } ] } ], "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of interchain disulfide bond. No effect on guidance of SLC7A5 to the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" }, { "database": "PubMed", "id": "9915839", "url": "https://glygen.org/publication/PubMed/9915839" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Arg129", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690726", "evidence": [ { "id": "rs30312834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30312834" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Gly133", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686428", "evidence": [ { "id": "rs3389516744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516744" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asn174", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690152", "evidence": [ { "id": "rs3389481486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389481486" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690148", "evidence": [ { "id": "rs222186024", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "P10852-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Lys246", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8687086", "evidence": [ { "id": "rs3389527908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389527908" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Tyr253", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686959", "evidence": [ { "id": "rs3389539453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389539453" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Asn284", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686727", "evidence": [ { "id": "rs39110315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39110315" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Asp28", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8691029", "evidence": [ { "id": "rs30847429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30847429" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686708", "evidence": [ { "id": "rs3408842106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408842106" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686691", "evidence": [ { "id": "rs3389523203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389523203" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686691", "evidence": [ { "id": "rs3389523203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389523203" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Phe338", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686480", "evidence": [ { "id": "rs263341789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263341789" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Gly33", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8691015", "evidence": [ { "id": "rs3389481570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389481570" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Gly356", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686428", "evidence": [ { "id": "rs3389516744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516744" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686413", "evidence": [ { "id": "rs3408952938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408952938" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685605", "evidence": [ { "id": "rs3389520155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520155" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Arg394", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685587", "evidence": [ { "id": "rs3389535878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535878" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Thr401", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685566", "evidence": [ { "id": "rs1134550805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134550805" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Phe416", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685422", "evidence": [ { "id": "rs3409029710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409029710" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Arg417", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685418", "evidence": [ { "id": "rs3409319178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409319178" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Arg418", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685415", "evidence": [ { "id": "rs3389517316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389517316" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685415", "evidence": [ { "id": "rs3389517316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389517316" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "419", 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508366" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Leu135", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817311", "evidence": [ { "id": "rs3388509436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509436" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Met136", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817314", "evidence": [ { "id": "rs3388506998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506998" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asp142", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160820979", "evidence": [ { "id": "rs3388509447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509447" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Asp150", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821002", "evidence": [ { "id": "rs3413145644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413145644" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Phe154", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821014", "evidence": [ { "id": "rs3388507012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507012" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Asp172", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821068", "evidence": [ { "id": "rs227108953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227108953" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Val174", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821074", "evidence": [ { "id": "rs3388512922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512922" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "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, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160816995", "evidence": [ { "id": "rs3388511804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511804" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Leu18", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160816960", "evidence": [ { "id": "rs3388511151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511151" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Gln214", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160822901", "evidence": [ { "id": "rs3388511345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511345" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Lys259", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160824929", "evidence": [ { "id": "rs3388508165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508165" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Lys269", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160824960", "evidence": [ { "id": "rs3388510418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510418" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Pro271", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160824965", "evidence": [ { "id": "rs261982908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261982908" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Gly28", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160816990", "evidence": [ { "id": "rs238171425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238171425" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Leu305", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825067", "evidence": [ { "id": "rs3388508572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508572" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ala30", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160816995", "evidence": [ { "id": "rs3388511804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511804" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Thr347", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825194", "evidence": [ { "id": "rs233796502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233796502" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Val351", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825205", "evidence": [ { "id": "rs5525178272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525178272" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Gly361", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825236", "evidence": [ { "id": "rs3388509786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509786" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Leu368", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825256", "evidence": [ { "id": "rs3388511370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511370" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Met371", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825266", "evidence": [ { "id": "rs13460840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13460840" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Leu376", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825280", "evidence": [ { "id": "rs49991990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49991990" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Gln383", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825301", "evidence": [ { "id": "rs3388506037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506037" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829872", "evidence": [ { "id": "rs3388509778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509778" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829873", "evidence": [ { "id": "rs3388509850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509850" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Ala417", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829885", "evidence": [ { "id": "rs3388508347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508347" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Thr419", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829891", "evidence": [ { "id": "rs3388507074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507074" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Cys41", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817029", "evidence": [ { "id": "rs3413058601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413058601" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Leu450", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829984", "evidence": [ { "id": "rs3388509871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509871" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Phe455", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829998", "evidence": [ { "id": "rs3388511742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511742" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ile48", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"id": "rs3388511771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511771" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Pro52", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817062", "evidence": [ { "id": "rs3388511218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511218" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Glu75", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817132", "evidence": [ { "id": "rs3388510778", "database": "dbSNP", "url": 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impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.", "url": "https://disease-ontology.org/term/DOID:13129", "evidence": [ { "id": "13129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13129" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment 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Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.", "url": "https://disease-ontology.org/term/DOID:1405", "evidence": [ { "id": "1405", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ], "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 } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "acute inflammatory response", "id": "GO:0002526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002526", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "endocardial cushion fusion", "id": "GO:0003274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003274", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "atrial septum primum morphogenesis", "id": "GO:0003289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003289", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "negative regulation of activin receptor signaling pathway", "id": "GO:0032926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032926", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cardiac muscle cell fate commitment", "id": "GO:0060923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060923", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "endocardial cushion cell fate commitment", "id": "GO:0061445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061445", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of determination of dorsal identity", "id": "GO:2000017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000017", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of cardiac epithelial to mesenchymal transition", "id": "GO:0062043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062043", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "transmembrane receptor protein serine/threonine kinase activity", "id": "GO:0004675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004675", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity, type I", "id": "GO:0005025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005025", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin receptor activity, type I", "id": "GO:0016361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016361", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin binding", "id": "GO:0048185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048185", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": 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hormone biosynthetic process", "id": "GO:0006700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006700", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "negative regulation of iron ion transport", "id": "GO:0034757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034757", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P28334-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 386, "chemical_mass": 43079.0, "gene_names": "Htr1b;5-HT-1B;5ht1b;Htr1b", "protein_name": "5-hydroxytryptamine receptor 1B", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "glycerol channel activity", "id": "GO:0015254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015254", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "hydrogen peroxide channel activity", "id": "GO:0140070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140070", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Cys101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect endoplasmic reticulum localization. Does not affect plama membrane localization. Reduces oligomerization. Impairs water permeability.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "21118806", "url": "https://glygen.org/publication/PubMed/21118806" } ] } ] }, { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Gly102", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Does not affect oligomerization formation.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "23486012", "url": "https://glygen.org/publication/PubMed/23486012" } ] } ] }, { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Cys227", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Homozygous sudden juvenile death syndrome (sjds) mice die before 20 day of age and exhibit severe proximal tubule injury and formation of giant vacuoles in the renal cortex. 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Upon glucose treatment, heterozygous Aqp11 mice show increased blood urea nitrogen levels that are prevented by the antioxidant sulforaphane or by phlorizin.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "18701606", "url": "https://glygen.org/publication/PubMed/18701606" } ] } ] }, { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Reduces oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "23486012", "url": "https://glygen.org/publication/PubMed/23486012" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P34928-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity involved in apoptotic process", "id": "GO:0008656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008656", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "apoptosome", "id": "GO:0043293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043293", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", 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}, { "database": "PubMed", "id": "21827944", "url": "https://glygen.org/publication/PubMed/21827944" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P06728-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 395, "chemical_mass": 45029.0, "gene_names": "Apoa4;Apoa-4;Apoa4;apo-AIV;apoA-IV", "protein_name": "Apolipoprotein A-IV", "disease": [ { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0061121", "name": "autosomal dominant tubulointerstitial kidney disease 6", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0061121", "evidence": [ { "id": "0061121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061121" } ], "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: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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "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:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": 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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:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "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: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: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: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: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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "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: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: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: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: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: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 } ], "biological_process": [ { "name": "negative regulation of translation in response to stress", "id": "GO:0032055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032055", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cellular response to osmotic stress", "id": "GO:0071470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071470", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "tRNA destabilization", "id": "GO:0036417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036417", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": 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Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Met139", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "D", "comment": "Interferes with transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "28602820", "url": "https://glygen.org/publication/PubMed/28602820" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Leu164", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Does not affect transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "28602820", "url": "https://glygen.org/publication/PubMed/28602820" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Leu167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Highly reduces transcription activity. Impairs interaction with AHR. Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ile168", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Highly reduces transcription activity. Impairs interaction with AHR. Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ala171", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Reduces transcription activity. Markedly reduces interaction with AHR. Impairs heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ile264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Impairs heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Arg266", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Val305", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Markedly decreases heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "307", "end_pos": "307", "site_lbl": "His307", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Arg366", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly decreases heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Impairs heterodimer formation with EPAS1; when associated with N-448. Impairs heterodimer formation with HIF1A; when associated with N-448. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Asn448", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Impairs heterodimer formation with EPAS1; when associated with A-366. Impairs heterodimer formation with HIF1A; when associated with A-366. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Tyr456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "94", "end_pos": "94", "site_lbl": "His94", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Glu98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] } ], "record_id": "batch.mouse.13" }, { "uniprot_canonical_ac": "P56402-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 271, "chemical_mass": 28965.0, "gene_names": "Aqp2;AQP-CD;Aqp2;WCH-CD;cph;jpk", "protein_name": "Aquaporin-2", "disease": [ { "disease_id": "DOID:0081061", "name": "nephrogenic diabetes insipidus type 2", "description": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0081061", "evidence": [ { "id": "0081061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081061" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "weight": 0.0 }, { "disease_id": "DOID:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "weight": 0.0 } ], "biological_process": [ { "name": "renal water homeostasis", "id": "GO:0003091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003091", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "renal water transport", "id": "GO:0003097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003097", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "glycerol transmembrane transport", "id": "GO:0015793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015793", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cellular response to water deprivation", "id": "GO:0042631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042631", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cellular response to mercury ion", "id": "GO:0071288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071288", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "metanephric collecting duct development", "id": "GO:0072205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072205", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "water transmembrane transporter activity", "id": "GO:0005372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005372", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "glycerol 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"semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": 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"embryonic olfactory bulb interneuron precursor migration", "id": "GO:0021831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021831", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "auditory receptor cell morphogenesis", "id": "GO:0002093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002093", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "hepatocyte growth factor receptor signaling pathway", "id": "GO:0048012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048012", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of neutrophil migration", "id": "GO:1902622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902622", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of lamellipodium assembly", "id": "GO:0010591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010591", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of nitric oxide biosynthetic process", "id": "GO:0045428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045428", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of cell adhesion involved in heart morphogenesis", "id": "GO:0061344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061344", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "mast cell chemotaxis", "id": "GO:0002551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002551", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of ruffle assembly", "id": "GO:1900029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900029", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": 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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: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: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: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:8469", "name": "influenza", "description": "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.", "url": "https://disease-ontology.org/term/DOID:8469", "evidence": [ { "id": "8469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8469" } ], "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 } ], "biological_process": [ { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "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": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "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": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of CD4-positive, alpha-beta T cell proliferation", "id": "GO:2000562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000562", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "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": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "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": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "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": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor superfamily cytokine production", "id": "GO:1903556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903556", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process", "id": "GO:1905404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905404", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "TRIF-dependent toll-like receptor signaling pathway", "id": "GO:0035666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035666", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of CD8-positive, alpha-beta T cell activation", "id": "GO:2001186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001186", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "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": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EP73-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asn191", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31852PQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TEGMLLNVTSSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": 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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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening 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. 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9D439-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D439", "url": "https://www.uniprot.org/uniprotkb/Q9D439" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 514, "chemical_mass": 61911.0, "gene_names": "Cfap53;4933415I03Rik;Ccdc11;Cfap53", "protein_name": "Cilia- and flagella-associated protein 53", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0051020", "name": 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"negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": "https://www.uniprot.org/uniprotkb/Q9R0R4" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": "https://www.uniprot.org/uniprotkb/Q9R0R4" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": "https://www.uniprot.org/uniprotkb/Q9R0R4" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": 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"name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "lateral ventricle development", "id": "GO:0021670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021670", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "sodium 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"https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "third ventricle development", "id": "GO:0021678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021678", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration", "id": "GO:0021944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021944", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "plasma membrane bounded cell projection organization", "id": "GO:0120036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120036", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "astrocyte projection", "id": "GO:0097449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097449", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": "https://www.uniprot.org/uniprotkb/P14231" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P14231", "url": 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"https://www.alliancegenome.org/disease/DOID:4450" } ], "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: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 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"mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "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": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "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": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "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": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "protein-containing complex localization", "id": "GO:0031503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031503", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of exit from mitosis", "id": "GO:0031536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031536", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "regulation of type B pancreatic cell proliferation", "id": "GO:0061469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061469", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "mitotic spindle midzone assembly", "id": "GO:0051256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051256", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of attachment of mitotic spindle microtubules to kinetochore", "id": "GO:1902425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902425", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090267", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "meiosis I", "id": "GO:0007127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007127", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of mitotic sister chromatid separation", "id": "GO:1901970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901970", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "positive regulation of mitotic cytokinesis", "id": "GO:1903490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903490", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "chromosome localization", "id": "GO:0050000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050000", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "spindle microtubule", "id": "GO:0005876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005876", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "interphase microtubule organizing center", "id": "GO:0031021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031021", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "chromosome passenger complex", "id": "GO:0032133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032133", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "survivin complex", "id": "GO:1990713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990713", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O70201", "url": "https://www.uniprot.org/uniprotkb/O70201" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": 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"name": "peptide antigen assembly with MHC class II protein complex", "id": "GO:0002503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002503", "evidence": [ { "database": "UniProtKB", "id": "P01887", "url": "https://www.uniprot.org/uniprotkb/P01887" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "P01887", "url": "https://www.uniprot.org/uniprotkb/P01887" } ], "pmid": "" }, { "name": "positive regulation of T cell cytokine production", "id": "GO:0002726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002726", "evidence": [ { "database": "UniProtKB", "id": "P01887", "url": "https://www.uniprot.org/uniprotkb/P01887" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I", "id": "GO:0019885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019885", "evidence": [ { 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"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:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "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: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: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: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:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "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: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: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:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "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: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: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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "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:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9427", "name": "hypertensive encephalopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9427", "evidence": [ { "id": "9427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9427" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "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: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 axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "regulation of retinal cell programmed cell death", "id": "GO:0046668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046668", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "taste bud development", "id": "GO:0061193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061193", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "regulation of short-term neuronal synaptic plasticity", "id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "mechanoreceptor differentiation", "id": "GO:0042490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042490", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "regeneration", "id": "GO:0031099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031099", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, GABAergic", "id": "GO:0032229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032229", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "inhibitory postsynaptic potential", "id": "GO:0060080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060080", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "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": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" } ], "molecular_function": [ { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity", "id": "GO:0004380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004380", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "fucosylgalactoside 3-alpha-galactosyltransferase activity", "id": "GO:0004381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004381", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "alpha-1,3-galactosyltransferase activity", "id": "GO:0001962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001962", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "hexosyltransferase activity", "id": "GO:0016758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016758", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" } ], "biological_process": [ { "name": "oligosaccharide biosynthetic process", "id": "GO:0009312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009312", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P38649", "url": "https://www.uniprot.org/uniprotkb/P38649" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P38649-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asn92", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", 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0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "26736605", "evidence": [ { "id": "rs3388540429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388540429" } ] } ] }, { "uniprot_canonical_ac": "P38649-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Val55", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "26736599", "evidence": [ { "id": "rs3388536901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388536901" } ] } ] }, { "uniprot_canonical_ac": "P38649-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ile74", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 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"Q6P9S1", "url": "https://www.uniprot.org/uniprotkb/Q6P9S1" } ], "pmid": "" }, { "name": "positive regulation of non-motile cilium assembly", "id": "GO:1902857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902857", "evidence": [ { "database": "UniProtKB", "id": "Q6P9S1", "url": "https://www.uniprot.org/uniprotkb/Q6P9S1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6P9S1", "url": "https://www.uniprot.org/uniprotkb/Q6P9S1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q6P9S1", "url": "https://www.uniprot.org/uniprotkb/Q6P9S1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": 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"" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q811C2", "url": "https://www.uniprot.org/uniprotkb/Q811C2" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q811C2", "url": "https://www.uniprot.org/uniprotkb/Q811C2" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q811C2", "url": "https://www.uniprot.org/uniprotkb/Q811C2" } ], "pmid": "" }, { "name": "protein delipidation", "id": "GO:0051697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051697", "evidence": [ { "database": "UniProtKB", "id": "Q811C2", "url": "https://www.uniprot.org/uniprotkb/Q811C2" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", 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], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8BGV7", "url": "https://www.uniprot.org/uniprotkb/Q8BGV7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BGV7", "url": "https://www.uniprot.org/uniprotkb/Q8BGV7" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8BGV7", "url": "https://www.uniprot.org/uniprotkb/Q8BGV7" } ], "pmid": "" }, { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q8BGV7", "url": "https://www.uniprot.org/uniprotkb/Q8BGV7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8BGW3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGW3", "url": "https://www.uniprot.org/uniprotkb/Q8BGW3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 223, "chemical_mass": 23701.0, "gene_names": "Bhlhe23;A930001L02Rik;BETA4;Beta3b;Bhlhb4;Bhlhe23;H20", "protein_name": "Class E basic helix-loop-helix protein 23", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BGW3", "url": "https://www.uniprot.org/uniprotkb/Q8BGW3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { 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"" }, { "name": "regulation of cell projection assembly", "id": "GO:0060491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060491", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell dendrite assembly", "id": "GO:2000549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000549", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of phospholipase C/protein kinase C signal transduction", "id": "GO:0141214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141214", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "CCL19-activated CCR7 signaling pathway", "id": "GO:0038119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038119", "evidence": [ { "database": "UniProtKB", "id": 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{ "database": "UniProtKB", "id": "P06332", "url": "https://www.uniprot.org/uniprotkb/P06332" } ], "pmid": "" }, { "name": "T cell selection", "id": "GO:0045058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045058", "evidence": [ { "database": "UniProtKB", "id": "P06332", "url": "https://www.uniprot.org/uniprotkb/P06332" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P06332", "url": "https://www.uniprot.org/uniprotkb/P06332" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P06332", "url": "https://www.uniprot.org/uniprotkb/P06332" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": 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"id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "positive regulation of inflammatory 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"pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "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": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" }, { "name": "positive regulation of neuroinflammatory response", "id": "GO:0150078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150078", "evidence": [ { "database": "UniProtKB", "id": "P51675", "url": "https://www.uniprot.org/uniprotkb/P51675" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P51676-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 356, "chemical_mass": 40849.0, "gene_names": "Ccr1l1;Ccr1l1;Cmkbr1l1", "protein_name": "C-C chemokine receptor 1-like protein 1", "disease": [ { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "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 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amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "chemokine receptor activity", "id": "GO:0004950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004950", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "C-C chemokine receptor 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"cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "immune response", "id": 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monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of neuroinflammatory response", "id": "GO:0150078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150078", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P51678-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 41783.0, "gene_names": "Ccr3;CC-CKR3;CKR3;Ccr3;Cmkbr1l2;Cmkbr3", "protein_name": "Probable C-C chemokine receptor type 3", "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:0050169", "name": "cutaneous lupus erythematosus", "description": "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.", "url": "https://disease-ontology.org/term/DOID:0050169", "evidence": [ { "id": "0050169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050169" } ], "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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "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: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: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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "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: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: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: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:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "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: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:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "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 }, { "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "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": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "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": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "mast cell chemotaxis", "id": "GO:0002551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002551", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "angioblast cell migration", "id": "GO:0035476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035476", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" } ], "molecular_function": [ { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P51945-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51945", "url": "https://www.uniprot.org/uniprotkb/P51945" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 294, "chemical_mass": 33903.0, "gene_names": "Ccng1;Ccng1;Ccng", "protein_name": "Cyclin-G1", "disease": [ { "disease_id": "DOID:0050933", "name": "ovarian serous carcinoma", "description": "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.", "url": "https://disease-ontology.org/term/DOID:0050933", "evidence": [ { "id": "0050933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050933" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "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:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "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:3356", "name": "localized osteosarcoma", "description": "An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.", "url": "https://disease-ontology.org/term/DOID:3356", "evidence": [ { "id": "3356", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3356" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", 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"https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P11609-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 336, "chemical_mass": 38554.0, "gene_names": "Cd1d1;CD1.1;Cd1.1;Cd1a;Cd1d1;Cd1d;Ly-38", "protein_name": "Antigen-presenting glycoprotein CD1d1", "disease": [ { "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:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:1394", "name": "urinary schistosomiasis", "description": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.", "url": "https://disease-ontology.org/term/DOID:1394", "evidence": [ { "id": "1394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1394" } ], "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 } ], "biological_process": [ { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "positive regulation of NK T cell activation", "id": "GO:0051135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051135", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "immune 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} ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Pro215", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904894", "evidence": [ { "id": "rs3541513808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541513808" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ala21", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906212", "evidence": [ { "id": "rs32852789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32852789" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Arg222", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904872", "evidence": [ { "id": "rs232955605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232955605" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Leu224", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904866", "evidence": [ { "id": "rs864308875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864308875" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Val225", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904864", "evidence": [ { "id": "rs3388638540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388638540" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Gln22", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906210", "evidence": [ { "id": "rs3393100843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393100843" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Tyr232", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904842", "evidence": [ { "id": "rs3388634434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388634434" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Gln23", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906207", "evidence": [ { "id": "rs3393343870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393343870" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Met241", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904815", "evidence": [ { "id": "rs864300486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864300486" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Gln245", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904802", "evidence": [ { "id": "rs3388633928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388633928" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904803", "evidence": [ { "id": "rs32851355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32851355" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Glu246", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904800", "evidence": [ { "id": "rs3388634432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388634432" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Gln248", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904794", "evidence": [ { "id": "rs3388626936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388626936" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Glu272", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904722", "evidence": [ { "id": "rs3541518354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541518354" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Asp298", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904093", "evidence": [ { "id": "rs3388638532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388638532" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Arg2", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906555", "evidence": [ { "id": "rs5526114146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526114146" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Met314", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904044", "evidence": [ { "id": "rs1133342163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133342163" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Val316", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904039", "evidence": [ { "id": "rs3541516233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541516233" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Tyr324", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904015", "evidence": [ { "id": "rs3388619408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388619408" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Arg327", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86904006", "evidence": [ { "id": "rs3388640953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388640953" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Ala331", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86903907", "evidence": [ { "id": "rs3541528577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541528577" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Met33", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906175", "evidence": [ { "id": "rs3541516260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541516260" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906176", "evidence": [ { "id": "rs3541528542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541528542" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Val47", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906135", "evidence": [ { "id": "rs3541515962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541515962" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ala63", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906086", "evidence": [ { "id": "rs585470492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585470492" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Thr64", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906083", "evidence": [ { "id": "rs32852787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32852787" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Thr68", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906071", "evidence": [ { "id": "rs48606260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48606260" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Trp6", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906542", "evidence": [ { "id": "rs32853510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32853510" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Trp71", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906061", "evidence": [ { "id": "rs3388638566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388638566" } ] } ] }, { "uniprot_canonical_ac": "P11609-1", "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, lectin/misc. glycan-binding/mhc.", "chr_id": "3", "chr_pos": "86906055", "evidence": [ { "id": "rs3388629765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388629765" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q7TQK5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQK5", "url": "https://www.uniprot.org/uniprotkb/Q7TQK5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 629, "chemical_mass": 72603.0, "gene_names": "Ccdc93;4633402D15Rik;9230102M16Rik;Ccdc93", "protein_name": "Coiled-coil domain-containing protein 93", "disease": [], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q7TQK5", "url": "https://www.uniprot.org/uniprotkb/Q7TQK5" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q7TQK5", "url": "https://www.uniprot.org/uniprotkb/Q7TQK5" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q7TQK5", "url": "https://www.uniprot.org/uniprotkb/Q7TQK5" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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. 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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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The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "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: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "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 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "CCR3 chemokine receptor binding", "id": "GO:0031728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031728", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "chronic inflammatory response", "id": "GO:0002544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002544", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "mast cell chemotaxis", "id": "GO:0002551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002551", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "response to interleukin-13", "id": "GO:0035962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035962", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "branching involved in mammary gland duct morphogenesis", "id": "GO:0060444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060444", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "mammary duct terminal end bud growth", "id": "GO:0060763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060763", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" }, { "name": "response to interleukin-4", "id": "GO:0070670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070670", "evidence": [ { "database": "UniProtKB", "id": "P48298", "url": "https://www.uniprot.org/uniprotkb/P48298" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48298-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Thr94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 94, "start_aa": "Thr", "end_pos": 94, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr94", "evidence": [ { "id": "P48298", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P48298#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P50283-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50283", "url": "https://www.uniprot.org/uniprotkb/P50283" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 210, "chemical_mass": 23153.0, "gene_names": "Cd7;Cd7", "protein_name": "T-cell antigen CD7", "disease": [], "biological_process": [ { "name": "interleukin-2-mediated signaling pathway", "id": "GO:0038110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038110", "evidence": [ { "database": "UniProtKB", "id": "P50283", "url": "https://www.uniprot.org/uniprotkb/P50283" } ], "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": "P50283", "url": "https://www.uniprot.org/uniprotkb/P50283" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P50283", "url": "https://www.uniprot.org/uniprotkb/P50283" } ], "pmid": "" }, { "name": "positive regulation of T cell cytokine production", "id": "GO:0002726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002726", "evidence": [ { "database": "UniProtKB", "id": "P50283", "url": "https://www.uniprot.org/uniprotkb/P50283" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "P50283", "url": "https://www.uniprot.org/uniprotkb/P50283" } ], "pmid": "" } ], 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{ "id": "0080038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080038" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P55097", "url": "https://www.uniprot.org/uniprotkb/P55097" } ], "pmid": "" }, { "name": "nucleoplasm", "id": 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"GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "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": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal 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canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "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": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "positive regulation of protein linear polyubiquitination", "id": "GO:1902530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902530", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": 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"N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NFPNSTNSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 251, "start_aa": "Asn", "end_pos": 251, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn251", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9ERD7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 450, "chemical_mass": 50419.0, "gene_names": 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fibrosis of the extraocular muscles", "description": "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.", "url": "https://disease-ontology.org/term/DOID:0080143", "evidence": [ { "id": "0080143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080143" } ], "weight": 0.0 }, { "disease_id": "DOID:0081017", "name": "congenital fibrosis of the extraocular muscles 3A", "description": "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.", "url": "https://disease-ontology.org/term/DOID:0081017", "evidence": [ { "id": "0081017", "database": "AGR", "url": 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"GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9ERD7", "url": "https://www.uniprot.org/uniprotkb/Q9ERD7" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "positive regulation of fertilization", "id": "GO:1905516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905516", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902093", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "axonemal central pair projection", "id": "GO:1990718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990718", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q61418-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 747, "chemical_mass": 83733.0, "gene_names": "Clcn4;Clc4-2;Clc4;Clcn4-2;Clcn4;clC-4", "protein_name": "H(+)/Cl(-) exchange transporter 4", "disease": [ { "disease_id": "DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.", "url": "https://disease-ontology.org/term/DOID:0050699", "evidence": [ { "id": "0050699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050699" } ], "weight": 0.0 }, { "disease_id": "DOID:0111815", "name": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", "description": "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0111815", "evidence": [ { "id": "0111815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111815" } ], "weight": 0.0 }, { "disease_id": "DOID:0112060", "name": "Raynaud-Claes syndrome", "description": "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0112060", "evidence": [ { "id": "0112060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112060" } ], "weight": 0.0 }, { "disease_id": "DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61418-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Thr499", "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": 499, "start_aa": "Thr", "end_pos": 499, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr499", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "7292222", "evidence": [ { "id": "rs3397450813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397450813" } ] } ] }, { "uniprot_canonical_ac": "Q61418-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ala342", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "7", "chr_pos": "7294736", "evidence": [ { "id": "rs3388877189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388877189" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q61147-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1061, "chemical_mass": 121151.0, "gene_names": "Cp;Cp;D3Ertd555e", "protein_name": "Ceruloplasmin", "disease": [ { "disease_id": "DOID:0050711", "name": "aceruloplasminemia", "description": "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:0050711", "evidence": [ { "id": "0050711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050711" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:12119", "name": "hemosiderosis", "description": "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.", "url": "https://disease-ontology.org/term/DOID:12119", "evidence": [ { "id": "12119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12119" } ], "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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "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: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": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "pmid": "" }, { "name": "intracellular copper ion 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"https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "intracellular pH elevation", "id": "GO:0051454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051454", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "secondary active sulfate transmembrane transporter activity", "id": "GO:0008271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008271", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVC8-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Asn149", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", 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muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "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": 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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: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: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:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "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: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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.alliancegenome.org/disease/DOID:8869" } ], "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: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:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "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: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 } ], "cellular_component": [ { "name": 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"GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "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": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "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": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "response to 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No restoration of chitinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" }, { "database": "PubMed", "id": "19041398", "url": "https://glygen.org/publication/PubMed/19041398" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8C025-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 398, "chemical_mass": 44608.0, "gene_names": "Chpt1;Chpt1;Cpt1;Dn4", "protein_name": "Cholinephosphotransferase 1", "disease": [ { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "diacylglycerol cholinephosphotransferase activity", "id": "GO:0004142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004142", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "phosphotransferase activity, for other substituted phosphate groups", "id": "GO:0016780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016780", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8CIW6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 758, "chemical_mass": 82834.0, "gene_names": "Slc26a6;B930010B04Rik;CFEX;Cfex;Pat-1;Pat1;Slc26a6", "protein_name": "Solute carrier family 26 member 6", "disease": [], "biological_process": [ { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "formate transport", "id": "GO:0015724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015724", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "mannitol transmembrane transport", "id": "GO:0015797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015797", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "oxalate transport", "id": "GO:0019532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019532", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "oxalic acid secretion", "id": "GO:0046724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046724", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "intestinal absorption", "id": "GO:0050892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050892", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "protein kinase C signaling", "id": "GO:0070528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070528", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "cellular response to fructose stimulus", "id": "GO:0071332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071332", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "transepithelial chloride transport", "id": "GO:0030321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030321", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "positive regulation of dipeptide transmembrane transport", "id": "GO:2001150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001150", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "intracellular pH elevation", "id": "GO:0051454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051454", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" } ], "molecular_function": [ { "name": "formate transmembrane transporter activity", "id": "GO:0015499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015499", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sulfate:bicarbonate antiporter activity", "id": "GO:0015383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015383", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "secondary active sulfate transmembrane transporter activity", "id": "GO:0008271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008271", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], 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"https://www.uniprot.org/uniprotkb/Q8CIW6" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733334", "evidence": [ { "id": "rs3389020036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020036" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733335", "evidence": [ { "id": "rs3389078146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389078146" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ala112", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733537", "evidence": [ { "id": "rs3389078197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389078197" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ile144", "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": "9", "chr_pos": "108733632", "evidence": [ { "id": "rs3389083992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389083992" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733907", "evidence": [ { "id": "rs231863472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231863472" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Thr164", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733995", "evidence": [ { "id": "rs3389051114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051114" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asp166", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733932", "evidence": [ { "id": "rs3389071258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071258" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Lys167", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733934", "evidence": [ { "id": "rs258608216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258608216" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Val170", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733943", "evidence": [ { "id": "rs217681121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217681121" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Gly172", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733949", "evidence": [ { "id": "rs234769283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234769283" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ala177", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733965", "evidence": [ { "id": "rs243192733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243192733" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Thr187", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733995", "evidence": [ { "id": "rs3389051114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051114" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734001", "evidence": [ { "id": "rs3389051098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051098" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734007", "evidence": [ { "id": "rs3389020044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020044" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Leu201", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734152", "evidence": [ { "id": "rs3412824862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412824862" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "203", "end_pos": "203", "site_lbl": "His203", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734158", "evidence": [ { "id": "rs3389071138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071138" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Pro214", "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": "9", "chr_pos": "108734191", "evidence": [ { "id": "rs3389071290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071290" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734205", "evidence": [ { "id": "rs3389020054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020054" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Gln22", "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": "9", "chr_pos": "108733018", "evidence": [ { "id": "rs49775390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49775390" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ile238", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734264", "evidence": [ { "id": "rs3389079279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389079279" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734273", "evidence": [ { "id": "rs238555012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238555012" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734293", "evidence": [ { "id": "rs3389075262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389075262" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Glu25", "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": "9", "chr_pos": "108733026", "evidence": [ { "id": "rs3389084541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389084541" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Glu262", "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": "9", "chr_pos": "108734421", "evidence": [ { "id": "rs263703752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263703752" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734425", "evidence": [ { "id": "rs3389076168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076168" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Val264", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734427", "evidence": [ { "id": "rs3389054589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054589" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Pro265", "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": "9", "chr_pos": "108734430", "evidence": [ { "id": "rs1135032772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135032772" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ala274", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734458", "evidence": [ { "id": "rs3389076209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076209" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "32", "end_pos": "32", "site_lbl": "His32", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733047", "evidence": [ { "id": "rs3389076231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076231" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Glu340", "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": "9", "chr_pos": "108735052", "evidence": [ { "id": "rs1133268406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133268406" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Thr344", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735064", "evidence": [ { "id": "rs3389071264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071264" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ala358", "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": "9", "chr_pos": "108735106", "evidence": [ { "id": "rs3389054556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054556" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Pro36", "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": "9", "chr_pos": "108733059", "evidence": [ { "id": "rs51650764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51650764" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Leu381", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735399", "evidence": [ { "id": "rs3389067746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389067746" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Cys396", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735444", "evidence": [ { "id": "rs3389051070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051070" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Val399", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735453", "evidence": [ { "id": "rs3389071256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071256" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ala444", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736023", "evidence": [ { "id": "rs3389071261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071261" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Lys459", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736068", "evidence": [ { "id": "rs3389054526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054526" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736089", "evidence": [ { "id": "rs3389071265", "database": "dbSNP", "url": 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"name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { "name": "UV-damage excision repair", "id": "GO:0070914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070914", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle phase transition", "id": "GO:1901990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901990", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { 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0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ] } ] }, { "uniprot_canonical_ac": "Q3U1J4-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q3U1J4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U1J4" }, { "database": "PubMed", "id": "25982117", "url": "https://glygen.org/publication/PubMed/25982117" } ] } ] }, { "uniprot_canonical_ac": "Q3U1J4-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Gly205", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKS).", "chr_id": "19", "chr_pos": "10588129", "evidence": [ { "id": "rs3389434181", "database": "dbSNP", "url": 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glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958902", "evidence": [ { "id": "rs3544815633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815633" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958901", "evidence": [ { "id": "rs3544920380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920380" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Met223", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NNM->NNT); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958931", "evidence": [ { "id": "rs46198948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46198948" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Met58", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NNM->NNT); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128925765", "evidence": [ { "id": "rs240840713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240840713" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Cys109", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957216", "evidence": [ { "id": "rs48530691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48530691" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Val114", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957230", "evidence": [ { "id": "rs581408690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581408690" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Thr116", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957236", "evidence": [ { "id": "rs221582199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221582199" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Val117", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957240", "evidence": [ { "id": "rs584545547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584545547" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Val120", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957248", "evidence": [ { "id": "rs3388864740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388864740" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Pro127", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957269", "evidence": [ { "id": "rs47774699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47774699" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957269", "evidence": [ { "id": "rs47774699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47774699" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ala128", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958168", "evidence": [ { "id": "rs45811071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45811071" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Thr129", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958171", "evidence": [ { "id": "rs582540636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582540636" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asn12", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128911414", "evidence": [ { "id": "rs245685358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245685358" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Thr131", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958177", "evidence": [ { "id": "rs3544815641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815641" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Glu132", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958179", "evidence": [ { "id": "rs3388848295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388848295" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Gln133", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958183", "evidence": [ { "id": "rs3544967971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967971" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Leu135", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958188", "evidence": [ { "id": "rs257940563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257940563" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958189", "evidence": [ { "id": "rs3544900174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900174" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ile136", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958192", "evidence": [ { "id": "rs3412942362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412942362" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958192", "evidence": [ { "id": "rs3412942362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412942362" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958191", "evidence": [ { "id": "rs3544967720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967720" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958195", "evidence": [ { "id": "rs3544900283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900283" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958196", "evidence": [ { "id": "rs3388862595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862595" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Lys138", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958199", "evidence": [ { "id": "rs222393980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222393980" } ] }, { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958198", "evidence": [ { "id": "rs3544920444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920444" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ala141", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958207", "evidence": [ { "id": "rs1133886101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133886101" } ] }, { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958206", "evidence": [ { "id": "rs3544815740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815740" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Lys145", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958218", "evidence": [ { "id": "rs3544847524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847524" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958219", "evidence": [ { "id": "rs3544810936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810936" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Asn146", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958223", "evidence": [ { "id": "rs1132419825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132419825" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ile148", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958227", "evidence": [ { "id": "rs242375372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242375372" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Val150", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958233", "evidence": [ { "id": "rs3544847656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847656" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Glu159", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958261", "evidence": [ { "id": "rs3544968028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968028" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958260", "evidence": [ { "id": "rs3544891999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544891999" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Thr161", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958266", "evidence": [ { "id": "rs864290980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864290980" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958266", "evidence": [ { "id": "rs864290980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864290980" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958266", "evidence": [ { "id": "rs864290980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864290980" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958270", "evidence": [ { "id": "rs1135209018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135209018" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958269", "evidence": [ { "id": "rs3544920307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920307" }, { "id": "rs1131810112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131810112" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Phe166", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958282", "evidence": [ { "id": "rs3544844506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844506" } ] }, { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958281", "evidence": [ { "id": "rs1134050658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134050658" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Phe170", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958294", "evidence": [ { "id": "rs1133077170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133077170" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Gln174", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958305", "evidence": [ { "id": "rs3544920462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920462" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Arg180", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958324", "evidence": [ { "id": "rs3544891420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544891420" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asp182", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958329", "evidence": [ { "id": "rs3544937310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937310" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Glu184", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958335", "evidence": [ { "id": "rs3545136885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545136885" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Lys185", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958338", "evidence": [ { "id": "rs583114256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583114256" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Asn188", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958827", "evidence": [ { "id": "rs3544817487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817487" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Arg192", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958838", "evidence": [ { "id": "rs578645947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578645947" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Tyr193", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958841", "evidence": [ { "id": "rs3544911185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911185" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ala195", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958847", "evidence": [ { "id": "rs3544920419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920419" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Phe197", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958852", "evidence": [ { "id": "rs3544900170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900170" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958859", "evidence": [ { "id": "rs3544810479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810479" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958859", "evidence": [ { "id": "rs3544810479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810479" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Arg205", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958878", "evidence": [ { "id": "rs3388841299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388841299" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Glu206", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958880", "evidence": [ { "id": "rs3544810265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810265" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Gln227", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959920", "evidence": [ { "id": "rs259591664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259591664" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959920", "evidence": [ { "id": "rs259591664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259591664" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Val229", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959926", "evidence": [ { "id": "rs3544817685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817685" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Thr231", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959932", "evidence": [ { "id": "rs3544847716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847716" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Cys232", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959935", "evidence": [ { "id": "rs3544937232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937232" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Tyr234", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959941", "evidence": [ { "id": "rs3544839106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839106" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Gly237", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959950", "evidence": [ { "id": "rs3544813111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813111" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959949", "evidence": [ { "id": "rs49940195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49940195" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "245", "end_pos": "245", "site_lbl": "His245", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959974", "evidence": [ { "id": "rs257070537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257070537" } ] }, { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959973", "evidence": [ { "id": "rs3544817720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817720" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959975", "evidence": [ { "id": "rs3544968012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968012" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959974", "evidence": [ { "id": "rs257070537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257070537" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ile247", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959980", "evidence": [ { "id": "rs3388854815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854815" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959979", "evidence": [ { "id": "rs3544911366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911366" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Pro248", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959982", "evidence": [ { "id": "rs3544967919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967919" } ] }, { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959983", "evidence": [ { "id": "rs3544911174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911174" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959983", "evidence": [ { "id": "rs3544911174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911174" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ile250", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959989", "evidence": [ { "id": "rs3544847469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847469" } ] }, { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959990", "evidence": [ { "id": "rs3544844584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844584" } ] }, { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959989", "evidence": [ { "id": "rs3544847469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847469" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "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, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960002", "evidence": [ { "id": "rs3388865197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865197" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Leu256", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960007", "evidence": [ { "id": "rs3545023020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023020" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Asn257", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960009", "evidence": [ { "id": "rs3544937384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937384" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960011", "evidence": [ { "id": "rs3544839307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839307" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960013", "evidence": [ { "id": "rs48202391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48202391" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "262", "end_pos": "262", "site_lbl": "His262", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960025", "evidence": [ { "id": "rs48550148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48550148" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960025", "evidence": [ { "id": "rs48550148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48550148" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Pro264", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960031", "evidence": [ { "id": "rs3544815806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815806" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960030", "evidence": [ { "id": "rs3544967975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967975" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Thr265", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960033", "evidence": [ { "id": "rs49387984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49387984" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Val267", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960040", "evidence": [ { 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"uniprot_canonical_ac": "Q9D676-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asn52", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128925747", "evidence": [ { "id": "rs3388862716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862716" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Phe59", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956360", "evidence": [ { "id": "rs1135116101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135116101" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "60", "end_pos": "60", "site_lbl": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47270775" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956411", "evidence": [ { "id": "rs47270775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47270775" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956413", "evidence": [ { "id": "rs578654380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578654380" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of 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"uniprot_canonical_ac": "Q9D676-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asn92", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957166", "evidence": [ { "id": "rs52003107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs52003107" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957165", "evidence": [ { "id": "rs3544937473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937473" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957169", "evidence": [ { "id": "rs3388865219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865219" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ala96", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957176", "evidence": [ { "id": "rs220522437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220522437" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ile97", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957179", "evidence": [ { "id": "rs251342082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251342082" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957179", "evidence": [ { "id": "rs251342082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251342082" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P54099-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P54099", "url": "https://www.uniprot.org/uniprotkb/P54099" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1218, "chemical_mass": 136758.0, "gene_names": "Polg;Polg1", "protein_name": "DNA polymerase subunit gamma-1", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", 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ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0080123", "evidence": [ { "id": "0080123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080123" } ], "weight": 0.0 }, { "disease_id": "DOID:0111276", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111276", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ], "weight": 0.0 }, { "disease_id": "DOID:0111521", "name": "autosomal dominant progressive external ophthalmoplegia 1", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111521", "evidence": [ { "id": "0111521", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111521" } ], "weight": 0.0 }, { "disease_id": "DOID:0111522", "name": "autosomal recessive progressive external ophthalmoplegia 1", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111522", "evidence": [ { "id": "0111522", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111522" } ], "weight": 0.0 }, { "disease_id": "DOID:10787", "name": "premature menopause", "description": "An ovarian dysfunction that is the loss of normal ovarian function before age 40.", "url": "https://disease-ontology.org/term/DOID:10787", "evidence": [ { "id": "10787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10787" } ], "weight": 0.0 }, { "disease_id": "DOID:12558", "name": "chronic progressive external ophthalmoplegia", "description": "A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions.", "url": "https://disease-ontology.org/term/DOID:12558", "evidence": [ { "id": "12558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12558" } ], "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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": 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"id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "positive regulation of immunological synapse formation", "id": "GO:2000522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000522", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "NK T cell activation", "id": "GO:0051132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051132", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "regulation of interleukin-2 production", "id": "GO:0032663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032663", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "Q9WVF9", "url": "https://www.uniprot.org/uniprotkb/Q9WVF9" } ], "pmid": "" } ], 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"chr_id": "6", "chr_pos": "128873380", "evidence": [ { "id": "rs3388865938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865938" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Leu176", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Val178", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873392", "evidence": [ { "id": "rs579180592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579180592" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Gly179", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873395", "evidence": [ { "id": "rs582411275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582411275" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Arg180", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873398", "evidence": [ { "id": "rs3544809580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809580" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Tyr183", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873407", "evidence": [ { "id": "rs3544911219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911219" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873415", "evidence": [ { "id": "rs3544841660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544841660" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873416", "evidence": [ { "id": "rs579901829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579901829" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Asp187", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873418", "evidence": [ { "id": "rs582194230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582194230" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Arg188", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873421", "evidence": [ { "id": "rs3544809598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809598" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ala18", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869810", "evidence": [ { "id": "rs229756475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229756475" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873440", "evidence": [ { "id": "rs3544847562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847562" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873441", "evidence": [ { "id": "rs3544809152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809152" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ile196", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873445", "evidence": [ { "id": "rs3545137042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545137042" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asn197", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873448", "evidence": [ { "id": "rs3544809593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809593" } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873449", "evidence": [ { "id": "rs3544895942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544895942" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873450", "evidence": [ { "id": "rs3544968044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968044" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Leu205", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873473", "evidence": [ { "id": "rs3388854775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854775" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873473", "evidence": [ { "id": "rs3388854775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854775" } ] }, { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873475", "evidence": [ { "id": "rs3544817654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817654" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873477", "evidence": [ { "id": "rs3545136865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545136865" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Asn207", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873479", "evidence": [ { "id": "rs3544847669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847669" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Leu210", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873487", "evidence": [ { "id": "rs3388857281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388857281" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "211", "end_pos": "211", "site_lbl": "His211", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873490", "evidence": [ { "id": "rs3388866299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388866299" } ] }, { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873491", "evidence": [ { "id": "rs3544896182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896182" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Gln213", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873496", "evidence": [ { "id": "rs3544846974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544846974" } ] }, { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873497", "evidence": [ { "id": "rs587125190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587125190" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Pro216", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873505", "evidence": [ { "id": "rs3544896078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896078" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Val217", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873509", "evidence": [ { "id": "rs3544911105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911105" } ] }, { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873508", "evidence": [ { "id": "rs5527807427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527807427" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Val21", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869819", "evidence": [ { "id": "rs3544813356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813356" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Glu26", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869835", "evidence": [ { "id": "rs3545023115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023115" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Pro2", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128864602", "evidence": [ { "id": "rs579340934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579340934" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Leu31", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869850", "evidence": [ { "id": "rs248656356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248656356" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Gly34", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869858", "evidence": [ { "id": "rs238653518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238653518" } ] }, { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869859", "evidence": [ { "id": "rs1133523365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133523365" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Val38", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870587", "evidence": [ { "id": "rs587175531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587175531" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Gln39", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870590", "evidence": [ { "id": "rs1134174359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134174359" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Cys42", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870599", "evidence": [ { "id": "rs3544967872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967872" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Phe43", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870602", "evidence": [ { "id": "rs3544937417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937417" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Arg44", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870606", "evidence": [ { "id": "rs3544809461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809461" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870606", "evidence": [ { "id": "rs3544809461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809461" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ile45", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870609", "evidence": [ { "id": "rs3544937529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937529" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ile46", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870613", "evidence": [ { "id": "rs3544809298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809298" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870615", "evidence": [ { "id": "rs3544896110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896110" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870617", "evidence": [ { "id": "rs3544911166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911166" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Val49", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870621", "evidence": [ { "id": "rs3545023015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023015" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Val52", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870630", "evidence": [ { "id": "rs3544836500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836500" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Leu54", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870635", "evidence": [ { "id": "rs3544911343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911343" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870636", "evidence": [ { "id": "rs3544847444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847444" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870635", "evidence": [ { "id": "rs3544911343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911343" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Tyr55", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870638", "evidence": [ { "id": "rs3544809451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809451" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Cys56", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870642", "evidence": [ { "id": "rs3544809185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809185" } ] }, { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870641", "evidence": [ { "id": "rs3544817576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817576" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870642", "evidence": [ { "id": "rs3544809185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809185" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Gly59", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869858", "evidence": [ { "id": "rs238653518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238653518" } ] }, { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869859", "evidence": [ { "id": "rs1133523365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133523365" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ile61", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870656", "evidence": [ { "id": "rs1134486197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134486197" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870656", "evidence": [ { "id": "rs1134486197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134486197" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Met62", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870661", "evidence": [ { "id": "rs3544836762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836762" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870660", "evidence": [ { "id": "rs3544841540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544841540" } ] }, { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870659", "evidence": [ { "id": "rs3545136966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545136966" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Thr65", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870669", "evidence": [ { "id": "rs1132063706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063706" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870669", "evidence": [ { "id": "rs1132063706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063706" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Glu6", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128864613", "evidence": [ { "id": "rs1133613558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133613558" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870690", "evidence": [ { "id": "rs3544813168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813168" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ala74", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870696", "evidence": [ { "id": "rs3544891122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544891122" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870702", "evidence": [ { "id": "rs3397405873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397405873" } ] }, { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870615", "evidence": [ { "id": "rs3544896110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896110" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Thr77", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870617", "evidence": [ { "id": "rs3544911166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911166" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Lys78", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871635", "evidence": [ { "id": "rs3545022940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545022940" } ] }, { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871635", "evidence": [ { "id": "rs3545022940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545022940" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ile84", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871652", "evidence": [ { "id": "rs3544895979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544895979" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ile85", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871655", "evidence": [ { "id": "rs3545022912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545022912" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Lys87", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871663", "evidence": [ { "id": "rs3544817546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817546" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871679", "evidence": [ { "id": "rs3544911304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911304" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871687", "evidence": [ { "id": "rs585526258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585526258" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Thr97", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871692", "evidence": [ { "id": "rs3544937204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937204" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871691", "evidence": [ { "id": "rs3544813117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813117" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Glu9", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128864624", "evidence": [ { "id": "rs5527864764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527864764" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "O55229-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55229", "url": "https://www.uniprot.org/uniprotkb/O55229" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 394, "chemical_mass": 45126.0, "gene_names": "Chkb;Chetk;Chkb;Chkl;Ck/Ek-beta;Ck/Ek;Ckb;Ckekb;Ck;Ek", "protein_name": "Choline/ethanolamine kinase", "disease": [ { "disease_id": "DOID:0110632", "name": "megaconial type congenital muscular dystrophy", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.", "url": "https://disease-ontology.org/term/DOID:0110632", "evidence": [ { "id": "0110632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110632" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "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 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"https://disease-ontology.org/term/DOID:0111673", "evidence": [ { "id": "0111673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111673" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8R1U1", "url": "https://www.uniprot.org/uniprotkb/Q8R1U1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R1U1", "url": "https://www.uniprot.org/uniprotkb/Q8R1U1" } ], "pmid": "" }, { "name": "Golgi transport complex", "id": "GO:0017119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017119", "evidence": [ { "database": "UniProtKB", "id": "Q8R1U1", "url": "https://www.uniprot.org/uniprotkb/Q8R1U1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": 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"identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8R1U1", "url": "https://www.uniprot.org/uniprotkb/Q8R1U1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R1U1-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R1U1", "url": "https://www.uniprot.org/uniprotkb/Q8R1U1" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9Z0F4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 191, "chemical_mass": 21763.0, "gene_names": "Cib1;Cib1;Cibkip;Cib;Kip;Prkdcip", "protein_name": "Calcium and integrin-binding protein 1", "disease": [ { "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:13777", "name": "epidermodysplasia verruciformis", "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to infection with specific human papillomavirus (HPV) genotypes, usually beta-HPV strains, and to the oncogenic potential of some of them, mainly HPV5 and HPV8. Affected individuals develop disseminated flat wart-like and pityriasis versicolor-like cutaneous lesions in childhood or adolescence. Associated with a high risk of carcinoma and has_symptom lesions on the body.", "url": "https://disease-ontology.org/term/DOID:13777", "evidence": [ { "id": "13777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13777" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "calcium-dependent protein kinase inhibitor activity", "id": "GO:0008427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008427", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion mediated by integrin", "id": "GO:0033630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of megakaryocyte differentiation", "id": "GO:0045653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045653", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "endomitotic cell cycle", "id": "GO:0007113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007113", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "thrombopoietin-mediated signaling pathway", "id": "GO:0038163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038163", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of male germ cell proliferation", "id": "GO:2000256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000256", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": 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"https://www.uniprot.org/uniprotkb/Q9D084" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P07141-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 552, "chemical_mass": 60649.0, "gene_names": "Csf1;BAP025;Csf1;Csfm;MCSF;Mhdabap25;PG-M-CSF;op", "protein_name": "Macrophage colony-stimulating factor 1", "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" } 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"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": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "positive regulation of monocyte differentiation", "id": "GO:0045657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045657", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "osteoclast proliferation", "id": "GO:0002158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002158", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "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": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "P07141", "url": "https://www.uniprot.org/uniprotkb/P07141" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": 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assembly protein COX18, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex IV assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" }, { "name": "respiratory chain complex IV assembly", "id": "GO:0008535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008535", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial membrane", "id": "GO:0051204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051204", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial inner membrane from matrix", "id": "GO:0032979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032979", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" }, { "name": "protein insertion into membrane", "id": "GO:0051205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051205", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" } ], "molecular_function": [ { "name": "membrane insertase activity", "id": "GO:0032977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032977", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q91V76-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 34996.0, "gene_names": "4931406C07Rik;Bkgd", "protein_name": "Beta-keto L-gulonate decarboxylase", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "hydrolase activity, acting on ester bonds", "id": "GO:0016788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016788", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "dehydro-L-gulonate decarboxylase activity", "id": "GO:0047842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047842", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9WVD4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 816, "chemical_mass": 90706.0, "gene_names": "Clcn5;5430408K11Rik;ClC-5;Clc4-1;Clc5;Clcn4-1;Clcn5;D930009B12Rik;DXImx42e;Sfc13", "protein_name": "H(+)/Cl(-) exchange transporter 5", "disease": [ { "disease_id": "DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.", "url": "https://disease-ontology.org/term/DOID:0050699", "evidence": [ { "id": "0050699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050699" } ], "weight": 0.0 }, { "disease_id": "DOID:0080353", "name": "X-linked recessive hypophosphatemic rickets", "description": "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0080353", "evidence": [ { "id": "0080353", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080353" } ], "weight": 0.0 }, { "disease_id": "DOID:0081453", "name": "Dent disease 1", "description": "A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent.", "url": "https://disease-ontology.org/term/DOID:0081453", "evidence": [ { "id": "0081453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081453" } ], "weight": 0.0 }, { "disease_id": "DOID:0111798", "name": "X-linked nephrolithiasis type I", "description": "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0111798", "evidence": [ { "id": "0111798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111798" } ], "weight": 0.0 }, { "disease_id": "DOID:0111815", "name": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", "description": "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0111815", "evidence": [ { "id": "0111815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111815" } ], "weight": 0.0 }, { "disease_id": "DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 }, { "disease_id": "DOID:447", "name": "renal tubular transport disease", "description": "", "url": "https://disease-ontology.org/term/DOID:447", "evidence": [ { "id": "447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:447" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": 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"start_pos": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9DAE7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAE7", "url": "https://www.uniprot.org/uniprotkb/Q9DAE7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 121, "chemical_mass": 13565.0, "gene_names": "1700012B09Rik;1700007P19Rik;1700012B09Rik", "protein_name": "Uncharacterized protein C11orf97 homolog", "disease": [], "cellular_component": [ { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9DAE7", "url": "https://www.uniprot.org/uniprotkb/Q9DAE7" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q9DAE7", "url": "https://www.uniprot.org/uniprotkb/Q9DAE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8BTE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BTE5", "url": "https://www.uniprot.org/uniprotkb/Q8BTE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 80, "chemical_mass": 9286.0, "gene_names": "Cebpzos;1110001A16Rik;Cebpzos", "protein_name": "Protein CEBPZOS", "disease": [], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8BTE5", "url": "https://www.uniprot.org/uniprotkb/Q8BTE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9CWX2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CWX2", "url": "https://www.uniprot.org/uniprotkb/Q9CWX2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 328, "chemical_mass": 37810.0, "gene_names": "Ndufaf1;Cia30", "protein_name": "Complex I intermediate-associated protein 30, mitochondrial", "disease": [ { "disease_id": "DOID:0112089", "name": "nuclear type mitochondrial complex I deficiency 11", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 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"https://www.uniprot.org/uniprotkb/Q9CWX2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CWX2", "url": "https://www.uniprot.org/uniprotkb/Q9CWX2" } ], "pmid": "" }, { "name": "mitochondrial complex I intermediate assembly complex", "id": "GO:0160295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160295", "evidence": [ { "database": "UniProtKB", "id": "Q9CWX2", "url": "https://www.uniprot.org/uniprotkb/Q9CWX2" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q9CWX2", "url": "https://www.uniprot.org/uniprotkb/Q9CWX2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ 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] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9D7D7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7D7", "url": "https://www.uniprot.org/uniprotkb/Q9D7D7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 296, "chemical_mass": 32461.0, "gene_names": "Cldn23;2310014B08Rik;Cldn23", "protein_name": "Claudin-23", "disease": [ { "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": 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"id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9D7D7", "url": "https://www.uniprot.org/uniprotkb/Q9D7D7" } ], "pmid": "" }, { "name": "calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules", "id": "GO:0016338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016338", "evidence": [ { "database": "UniProtKB", "id": "Q9D7D7", "url": "https://www.uniprot.org/uniprotkb/Q9D7D7" } ], "pmid": "" }, { "name": "tight junction organization", "id": "GO:0120193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120193", "evidence": [ { "database": "UniProtKB", "id": "Q9D7D7", "url": "https://www.uniprot.org/uniprotkb/Q9D7D7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q91WD4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WD4", "url": 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It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.", "url": "https://disease-ontology.org/term/DOID:2058", "evidence": [ { "id": "2058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2058" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "polysaccharide binding", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001872", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "opsonin binding", "id": "GO:0001846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001846", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "(1->3)-beta-D-glucan immune receptor activity", "id": "GO:0001874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001874", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" } ], "biological_process": [ { "name": "leukocyte activation involved in immune response", "id": "GO:0002366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002366", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-23 production", "id": "GO:0032747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032747", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070884", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "detection of fungus", "id": "GO:0016046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016046", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in immune response", "id": "GO:0002720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002720", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "stimulatory C-type lectin receptor signaling pathway", "id": "GO:0002223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002223", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "response to molecule of fungal origin", "id": "GO:0002238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002238", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cell recognition", "id": "GO:0008037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008037", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cellular response to molecule of fungal origin", "id": "GO:0071226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071226", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell cytokine production", "id": "GO:0002732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002732", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cell activation", "id": "GO:0001775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001775", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of stress-activated MAPK cascade", "id": "GO:0032874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032874", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "antifungal innate immune response", "id": "GO:0061760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061760", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "detection of yeast", "id": "GO:0001879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001879", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of respiratory burst", "id": "GO:0060267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060267", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 type immune response", "id": "GO:2000318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000318", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of lymphocyte activation", "id": "GO:0051251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051251", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of cell maturation", "id": "GO:1903431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903431", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "detection of molecule of fungal origin", "id": "GO:0032491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032491", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "leukocyte activation", "id": "GO:0045321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045321", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cell surface", "id": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924601" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Leu168", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646544", "evidence": [ { "id": "rs3388911304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911304" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Thr17", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652564", "evidence": [ { "id": "rs37126846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37126846" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "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": "83646498", "evidence": [ { "id": "rs3388915807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915807" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Trp184", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646496", "evidence": [ { "id": "rs3388911229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911229" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Val191", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646476", "evidence": [ { "id": "rs3388924641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924641" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Val193", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646469", "evidence": [ { "id": "rs1134037683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134037683" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Leu198", "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": "83646455", "evidence": [ { "id": "rs3388881873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881873" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Asn24", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652543", "evidence": [ { "id": "rs254468323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254468323" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "262", "end_pos": "262", "site_lbl": "His262", "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": "83641239", "evidence": [ { "id": "rs3388903142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903142" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "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": "83638400", "evidence": [ { "id": "rs3388927768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927768" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Val274", "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": "83638389", "evidence": [ { "id": "rs3388924083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924083" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ala28", "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": "83652532", "evidence": [ { "id": "rs242117301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242117301" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652528", "evidence": [ { "id": "rs3388918210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918210" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ala33", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648460", "evidence": [ { "id": "rs37016769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37016769" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Gly391", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83632389", "evidence": [ { "id": "rs3398026729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398026729" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Arg408", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631589", "evidence": [ { "id": "rs3388923144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923144" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Thr412", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631576", "evidence": [ { "id": "rs3388915799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915799" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "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": "83631570", "evidence": [ { "id": "rs3388924099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924099" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Asn418", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631559", "evidence": [ { "id": "rs3388881853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881853" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ala442", "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": "83631487", "evidence": [ { "id": "rs3388924167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924167" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "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": "83631483", "evidence": [ { "id": "rs3388920648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920648" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Thr444", "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": "83631480", "evidence": [ { "id": "rs3388903174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903174" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Arg455", "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": "83631447", "evidence": [ { "id": "rs223692469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223692469" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Glu505", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83624322", "evidence": [ { "id": "rs3388924385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924385" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Pro510", "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": "83624306", "evidence": [ { "id": "rs3388923186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923186" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Gly525", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83624261", "evidence": [ { "id": "rs3388926916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926916" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Arg52", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648404", "evidence": [ { "id": "rs3388911289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911289" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ala537", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622568", "evidence": [ { "id": "rs246085261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246085261" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asp53", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648401", "evidence": [ { "id": "rs3388923161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923161" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Gly563", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622490", "evidence": [ { "id": "rs3398345487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398345487" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Tyr571", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622467", "evidence": [ { "id": "rs3398151824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398151824" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Asp572", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622463", "evidence": [ { "id": "rs3398345456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398345456" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622464", "evidence": [ { "id": "rs3397406186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397406186" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Pro573", "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": "83622460", "evidence": [ { "id": "rs3398196307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398196307" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ile58", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648385", "evidence": [ { "id": "rs3388924469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924469" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ile590", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622410", "evidence": [ { "id": "rs48830830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48830830" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Thr591", "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": "83622406", "evidence": [ { "id": "rs3388915815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915815" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ile600", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83613398", "evidence": [ { "id": "rs246240345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246240345" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Cys667", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83613198", "evidence": [ { "id": "rs3388896294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896294" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Ala676", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83612299", "evidence": [ { "id": "rs3388903199", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q8BI06-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Ser765", "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": "83606922", "evidence": [ { "id": "rs3388924631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924631" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Asp826", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83604563", "evidence": [ { "id": "rs3388926956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926956" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Lys830", 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