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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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"id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "F6U8V3", "url": "https://www.uniprot.org/uniprotkb/F6U8V3" } ], "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": "F6U8V3", "url": "https://www.uniprot.org/uniprotkb/F6U8V3" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "F6U8V3", "url": "https://www.uniprot.org/uniprotkb/F6U8V3" } ], "pmid": "" }, { "name": "beta-2-microglobulin binding", "id": "GO:0030881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030881", "evidence": [ { "database": "UniProtKB", "id": "F6U8V3", "url": "https://www.uniprot.org/uniprotkb/F6U8V3" } ], "pmid": "" }, { "name": "peptide 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"uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ala1029", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228407", "evidence": [ { "id": "rs3388496263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496263" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1030", "end_pos": "1030", "site_lbl": "Leu1030", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228404", "evidence": [ { "id": "rs3388496101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496101" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255732", "evidence": [ { "id": "rs3388493996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493996" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Val1107", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228173", "evidence": [ { "id": "rs3507648911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507648911" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Glu110", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255711", "evidence": [ { "id": "rs3388494567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494567" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1118", "end_pos": "1118", "site_lbl": "Glu1118", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228141_128228142insACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388494989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494989" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1120", "end_pos": "1120", "site_lbl": "Lys1120", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228134", "evidence": [ { "id": "rs3388496383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496383" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Gly1121", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228130", "evidence": [ { "id": "rs3388495984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495984" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1131", "end_pos": "1131", "site_lbl": "Trp1131", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228101", "evidence": [ { "id": "rs3388496911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496911" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1142", "end_pos": "1142", "site_lbl": "Asp1142", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228068", "evidence": [ { "id": "rs3388496284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496284" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ala1146", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228055", "evidence": [ { "id": "rs3388495151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495151" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1184", "end_pos": "1184", "site_lbl": "Leu1184", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227942", "evidence": [ { "id": "rs217366103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217366103" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Thr1203", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227884", "evidence": [ { "id": "rs3388496029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496029" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Gln120", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255681", "evidence": [ { "id": "rs3388493979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493979" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1232", "end_pos": "1232", "site_lbl": "Asp1232", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227799_128227800insCTCCTAGACTGAACCCACCCAGCTATGATAATGACATGGAGTTAAAGGCCAGTGACATGAACTCTTCAGCCTTGATCTCCATG", "evidence": [ { "id": "rs3390612360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390612360" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1240", "end_pos": "1240", "site_lbl": "Met1240", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227772", "evidence": [ { "id": "rs3388496106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496106" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1241", "end_pos": "1241", "site_lbl": "Asn1241", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227771", "evidence": [ { "id": "rs3388494240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494240" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1248", "end_pos": "1248", "site_lbl": "Met1248", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227748", "evidence": [ { "id": "rs3388495988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495988" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1250", "end_pos": "1250", "site_lbl": "His1250", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227744", "evidence": [ { "id": "rs225650851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225650851" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1252", "end_pos": "1252", "site_lbl": "Asp1252", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227737", "evidence": [ { "id": "rs265643793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265643793" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1269", "end_pos": "1269", "site_lbl": "Gly1269", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227687", "evidence": [ { "id": "rs3388496107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496107" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1284", "end_pos": "1284", "site_lbl": "Asn1284", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227641", "evidence": [ { "id": "rs252054036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252054036" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1291", "end_pos": "1291", "site_lbl": "Glu1291", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227620", "evidence": [ { "id": "rs3388496669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496669" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1296", "end_pos": "1296", "site_lbl": "His1296", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227604", "evidence": [ { "id": "rs3388493945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493945" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1305", "end_pos": "1305", "site_lbl": "Lys1305", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128227578", "evidence": [ { "id": "rs3388496853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496853" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1307", "end_pos": "1307", "site_lbl": "Tyr1307", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226468", "evidence": [ { "id": "rs5525077118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525077118" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Ala1321", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226427", "evidence": [ { "id": "rs226885605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226885605" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1327", "end_pos": "1327", "site_lbl": "Glu1327", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226409", "evidence": [ { "id": "rs3388495131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495131" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1331", "end_pos": "1331", "site_lbl": "Gly1331", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226396", "evidence": [ { "id": "rs3388495118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495118" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1349", "end_pos": "1349", "site_lbl": "Pro1349", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226343", "evidence": [ { "id": "rs3388496695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496695" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1378", "end_pos": "1378", "site_lbl": "Tyr1378", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128226257_128226258insCTCAACCATCACT", "evidence": [ { "id": "rs3388498357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498357" }, { "id": "rs3388493425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493425" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255623", "evidence": [ { "id": "rs47691210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47691210" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1455", "end_pos": "1455", "site_lbl": "Ile1455", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222923", "evidence": [ { "id": "rs249311322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249311322" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1458", "end_pos": "1458", "site_lbl": "Pro1458", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222914", "evidence": [ { "id": "rs230205132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230205132" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1461", "end_pos": "1461", "site_lbl": "Leu1461", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222905", "evidence": [ { "id": "rs3388496379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496379" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1506", "end_pos": "1506", "site_lbl": "Asp1506", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222023_128222024insACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388498185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498185" } ] }, { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222020", "evidence": [ { "id": "rs3388493357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493357" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1508", "end_pos": "1508", "site_lbl": "Gly1508", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222015_128222016insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388494216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494216" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1513", "end_pos": "1513", "site_lbl": "Glu1513", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128222000", "evidence": [ { "id": "rs3390625529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390625529" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Phe153", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255583", "evidence": [ { "id": "rs3388493348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493348" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1596", "end_pos": "1596", "site_lbl": "Gly1596", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128221455", "evidence": [ { "id": "rs3388496271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496271" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255553", "evidence": [ { "id": "rs1132650210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132650210" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1701", "end_pos": "1701", "site_lbl": "Val1701", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128216710", "evidence": [ { "id": "rs265781372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265781372" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ile170", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255532", "evidence": [ { "id": "rs3388496329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496329" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1718", "end_pos": "1718", "site_lbl": "Trp1718", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215422", "evidence": [ { "id": "rs3388495100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495100" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1726", "end_pos": "1726", "site_lbl": "Leu1726", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215398", "evidence": [ { "id": "rs3388496360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496360" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1764", "end_pos": "1764", "site_lbl": "Leu1764", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215285", "evidence": [ { "id": "rs3388496311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496311" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1777", "end_pos": "1777", "site_lbl": "Ile1777", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215245", "evidence": [ { "id": "rs3388496091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496091" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1778", "end_pos": "1778", "site_lbl": "Asn1778", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128215242", "evidence": [ { "id": "rs3388496839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496839" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Leu177", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255511", "evidence": [ { "id": "rs3388495510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495510" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1785", "end_pos": "1785", "site_lbl": "Arg1785", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214417", "evidence": [ { "id": "rs243799657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243799657" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Glu178", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255509", "evidence": [ { "id": "rs3388495535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495535" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1792", "end_pos": "1792", "site_lbl": "Gly1792", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214396", "evidence": [ { "id": "rs3388495502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495502" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Lys179", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255505", "evidence": [ { "id": "rs31469127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31469127" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1819", "end_pos": "1819", "site_lbl": "Arg1819", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214315", "evidence": [ { "id": "rs3388495110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495110" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1825", "end_pos": "1825", "site_lbl": "Pro1825", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214297", "evidence": [ { "id": "rs3388496673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496673" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1834", "end_pos": "1834", "site_lbl": "Val1834", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214270", "evidence": [ { "id": "rs3388496862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496862" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Gly183", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255493", "evidence": [ { "id": "rs259315752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259315752" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1852", "end_pos": "1852", "site_lbl": "His1852", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214217", "evidence": [ { "id": "rs3388496414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496414" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1856", "end_pos": "1856", "site_lbl": "Gln1856", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128214203", "evidence": [ { "id": "rs3390623845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390623845" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1918", "end_pos": "1918", "site_lbl": "Thr1918", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128212900", "evidence": [ { "id": "rs253337967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253337967" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "1931", "end_pos": "1931", "site_lbl": "Phe1931", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128212861", "evidence": [ { "id": "rs3388492982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388492982" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Asp199", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255446", "evidence": [ { "id": "rs239861925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239861925" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Lys203", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255434", "evidence": [ { "id": "rs3388496134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496134" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Val207", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255422", "evidence": [ { "id": "rs3539704544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539704544" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Val222", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246858", "evidence": [ { "id": "rs3388496704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496704" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Leu231", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246831", "evidence": [ { "id": "rs3388493394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493394" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246812", "evidence": [ { "id": "rs240437280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240437280" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Lys242", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128246797", "evidence": [ { "id": "rs254163404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254163404" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Val278", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128239353", "evidence": [ { "id": "rs47201560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47201560" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Val280", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128239347", "evidence": [ { "id": "rs240132971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240132971" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128239316", "evidence": [ { "id": "rs220703988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220703988" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Val314", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128238306", "evidence": [ { "id": "rs3388496298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496298" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Gln347", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235966", "evidence": [ { "id": "rs3539699004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539699004" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235946", "evidence": [ { "id": "rs220296088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220296088" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Leu368", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235902", "evidence": [ { "id": "rs252169603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252169603" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235898", "evidence": [ { "id": "rs233118514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233118514" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Thr38", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128255928", "evidence": [ { "id": "rs3388495063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495063" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Val399", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235810", "evidence": [ { "id": "rs3388496721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496721" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Phe465", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235613", "evidence": [ { "id": "rs245832794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245832794" } ] }, { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235612", "evidence": [ { "id": "rs225725797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225725797" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Thr469", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235601", "evidence": [ { "id": "rs215914328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215914328" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Asn472", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235591", "evidence": [ { "id": "rs246311969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246311969" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Trp500", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235507", "evidence": [ { "id": "rs3388496650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496650" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Leu506", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235489", "evidence": [ { "id": "rs3388496832", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496832" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Thr555", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235342", "evidence": [ { "id": "rs3388495103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495103" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ala568", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128235303", "evidence": [ { "id": "rs249663853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249663853" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Tyr587", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128232088", "evidence": [ { "id": "rs3388498282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498282" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Arg598", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128232055", "evidence": [ { "id": "rs3539698964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539698964" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Asp606", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128232032", "evidence": [ { "id": "rs3388495545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495545" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Trp607", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128232028", "evidence": [ { "id": "rs3388495128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495128" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Leu611", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128232016", "evidence": [ { "id": "rs3388496257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496257" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Gly613", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128232011", "evidence": [ { "id": "rs249552028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249552028" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Ile639", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231933", "evidence": [ { "id": "rs215373517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215373517" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Arg648", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231905", "evidence": [ { "id": "rs3388495169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495169" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Thr654", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231887", "evidence": [ { "id": "rs264097369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264097369" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Arg691", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231777", "evidence": [ { "id": "rs3388495989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495989" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Lys695", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231764", "evidence": [ { "id": "rs3388496668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496668" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Ser704", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231736", "evidence": [ { "id": "rs3388496099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496099" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "739", "end_pos": "739", "site_lbl": "Arg739", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231632", "evidence": [ { "id": "rs228257721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228257721" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Ala741", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231627", "evidence": [ { "id": "rs263244158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263244158" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Tyr745", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231615", "evidence": [ { "id": "rs3388498260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498260" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Phe753", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128231591", "evidence": [ { "id": "rs3388495583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495583" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "803", "end_pos": "803", "site_lbl": "Leu803", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128229085", "evidence": [ { "id": "rs3539695072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539695072" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "841", "end_pos": "841", "site_lbl": "Thr841", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228970", "evidence": [ { "id": "rs3388498363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388498363" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Pro860", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228914", "evidence": [ { "id": "rs3388495145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495145" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Ser866", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228895", "evidence": [ { "id": "rs224988922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224988922" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "870", "end_pos": "870", "site_lbl": "Arg870", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228883", "evidence": [ { "id": "rs3388495992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495992" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Trp887", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228833", "evidence": [ { "id": "rs3390642958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390642958" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "927", "end_pos": "927", "site_lbl": "Ala927", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228712", "evidence": [ { "id": "rs3388494248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494248" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "939", "end_pos": "939", "site_lbl": "Thr939", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228676", "evidence": [ { "id": "rs50723357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50723357" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "945", "end_pos": "945", "site_lbl": "Gly945", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228659", "evidence": [ { "id": "rs3388496070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496070" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "956", "end_pos": "956", "site_lbl": "Cys956", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228626", "evidence": [ { "id": "rs3388493002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493002" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "971", "end_pos": "971", "site_lbl": "Thr971", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228580", "evidence": [ { "id": "rs3388496018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496018" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "994", "end_pos": "994", "site_lbl": "Ser994", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228512", "evidence": [ { "id": "rs3388496265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496265" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Ile995", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228508", "evidence": [ { "id": "rs3388494302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494302" } ] } ] }, { "uniprot_canonical_ac": "F8VPT3-1", "start_pos": "998", "end_pos": "998", "site_lbl": "Gln998", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "128228498", "evidence": [ { "id": "rs3388496003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496003" } ] } ] } ], "record_id": "F8VPT3-1" }, { "uniprot_canonical_ac": "J3QN49-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QN49", "url": "https://www.uniprot.org/uniprotkb/J3QN49" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 87, "chemical_mass": 9851.0, "gene_names": "Esp3;Esp3;Gm21945", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "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": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "positive regulation of circadian rhythm", "id": "GO:0042753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042753", "evidence": [ { "database": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q3ULA2", "url": "https://www.uniprot.org/uniprotkb/Q3ULA2" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": 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[], "record_id": "Q3ULA2-1" }, { "uniprot_canonical_ac": "Q9CR14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR14", "url": "https://www.uniprot.org/uniprotkb/Q9CR14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 375, "chemical_mass": 42527.0, "gene_names": "Fancl;2010322C19Rik;B230118H11Rik;Fancl;Phf9;Pog;gcd", "protein_name": "E3 ubiquitin-protein ligase FANCL", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0111082", "name": "Fanconi anemia complementation group L", "description": "A Fanconi anemia that 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"gene_names": "Fhl5;1700027G07Rik;Act;Fhl5", "protein_name": "Four and a half LIM domains protein 5", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX7", "url": "https://www.uniprot.org/uniprotkb/Q9WTX7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX7", "url": "https://www.uniprot.org/uniprotkb/Q9WTX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX7", "url": "https://www.uniprot.org/uniprotkb/Q9WTX7" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Ser653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369293", "evidence": [ { "id": "rs3388875672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388875672" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Ser657", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8VCB3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VCB3" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation. No effect on the interaction with GYG1. Does not affect the result of other mutations; when associated with A-135; R-135; R-141; A-239; A-243; or R-243.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCB3", "url": "https://www.uniprot.org/uniprotkb/Q8VCB3" }, { "database": "PubMed", "id": "24982189", "url": "https://glygen.org/publication/PubMed/24982189" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asp133", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142406956", "evidence": [ { "id": "rs3388872304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388872304" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405286", "evidence": [ { "id": "rs5527898928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527898928" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Phe179", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405250", "evidence": [ { "id": "rs3388850651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850651" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Thr204", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405175", "evidence": [ { "id": "rs3388868988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868988" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Leu213", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142405149", "evidence": [ { "id": "rs3388846599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388846599" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Pro24", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142418457", "evidence": [ { "id": "rs3388868966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868966" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ala266", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142402041", "evidence": [ { "id": "rs3388830864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830864" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Met269", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142402031", "evidence": [ { "id": "rs3388850642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850642" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Lys271", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142402027", "evidence": [ { "id": "rs32172839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32172839" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Pro279", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142400963", "evidence": [ { "id": "rs3388862578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862578" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asp27", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369267", "evidence": [ { "id": "rs32170912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32170912" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Leu2", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142418523", "evidence": [ { "id": "rs3388853302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853302" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Leu30", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142418439", "evidence": [ { "id": "rs3388862522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862522" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Tyr405", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142396210", "evidence": [ { "id": "rs3388830883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830883" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ile413", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142395226", "evidence": [ { "id": "rs3388862585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862585" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ala431", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142395173", "evidence": [ { "id": "rs3388850613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850613" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ile432", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142395169", "evidence": [ { "id": "rs3388869034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388869034" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Gly43", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142409126", "evidence": [ { "id": "rs3388868515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868515" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Pro442", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142394212", "evidence": [ { "id": "rs3388875632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388875632" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Ser452", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142394183", "evidence": [ { "id": "rs3388869020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388869020" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Leu465", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142394143", "evidence": [ { "id": "rs3388866730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388866730" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Pro479", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142391826", "evidence": [ { "id": "rs3388830940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830940" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Pro487", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142391802", "evidence": [ { "id": "rs3388862892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862892" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Met491", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142391790", "evidence": [ { "id": "rs3388844400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388844400" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Val538", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142376049", "evidence": [ { "id": "rs32174624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32174624" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Gln539", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142376047_142376048insTCTCCACACTACCTCAACCATCA", "evidence": [ { "id": "rs3388867079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867079" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Glu540", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142376042", "evidence": [ { "id": "rs3388867038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867038" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Thr54", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142409093", "evidence": [ { "id": "rs3507845134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507845134" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ala56", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142409087", "evidence": [ { "id": "rs3388872265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388872265" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Thr630", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142373081", "evidence": [ { "id": "rs239381443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239381443" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Thr631", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369358", "evidence": [ { "id": "rs3388867072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867072" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Lys635", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369345", "evidence": [ { "id": "rs3388844476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388844476" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Pro639", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369335", "evidence": [ { "id": "rs3388868570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388868570" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Pro643", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "6", "chr_pos": "142369323", "evidence": [ { "id": "rs3388875649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388875649" } ] } ] }, { "uniprot_canonical_ac": "Q8VCB3-1", "start_pos": "656", "end_pos": "656", "site_lbl": 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"database": "UniProtKB", "id": "Q4VBD9", "url": "https://www.uniprot.org/uniprotkb/Q4VBD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4VBD9-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "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": 160, "start_aa": "Thr", "end_pos": 160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr160", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4VBD9-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Ser611", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", 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filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "2", "chr_pos": "148532790", "evidence": [ { "id": "rs3388596541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596541" } ] } ] } ], "record_id": "Q4VBD9-1" }, { "uniprot_canonical_ac": "A0A0J9YU00-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU00", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU00" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 481, "chemical_mass": 55051.0, "gene_names": "Pramel33;Pramel33", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU00", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU00" } ], "pmid": "" }, { "name": "Cul2-RING ubiquitin ligase complex", "id": 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"positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "natural killer cell activation", "id": "GO:0030101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030101", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "mast cell degranulation", "id": "GO:0043303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043303", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell differentiation", "id": "GO:0032825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032825", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell activation", "id": "GO:0032816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032816", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "secretory granule localization", "id": "GO:0032252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032252", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" }, { "name": "diacylglycerol binding", "id": "GO:0019992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019992", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1S3-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Thr184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" }, { "database": "iPTMnet", "id": "Q9Z1S3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S3" }, { "database": "PubMed", "id": "22116551", "url": "https://glygen.org/publication/PubMed/22116551" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S3-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Ser597", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S3-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Arg271", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Loss of function and transforming activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S3" }, { "database": "PubMed", "id": "14970203", "url": "https://glygen.org/publication/PubMed/14970203" }, { "database": "PubMed", "id": "9819387", "url": "https://glygen.org/publication/PubMed/9819387" } ] } ] } ], "record_id": "Q9Z1S3-1" }, { "uniprot_canonical_ac": "P61979-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 463, "chemical_mass": 50976.0, "gene_names": "Hnrnpk;Hnrnpk;Hnrpk;KBBP;NOVA", "protein_name": "Heterogeneous nuclear ribonucleoprotein K", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10300", "name": "Raynaud disease", "description": "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.", "url": "https://disease-ontology.org/term/DOID:10300", "evidence": [ { "id": "10300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10300" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" } ], "biological_process": [ { "name": "random inactivation of X chromosome", "id": "GO:0060816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060816", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "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": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "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": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "negative regulation of mRNA splicing, via spliceosome", "id": "GO:0048025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048025", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle clearance", "id": "GO:1905581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905581", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "regulation of mRNA splicing, via spliceosome", "id": "GO:0048024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048024", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated heterochromatin formation", "id": "GO:0031048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031048", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:1902165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902165", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P61979", "url": "https://www.uniprot.org/uniprotkb/P61979" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "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:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 } ], "biological_process": [ { "name": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "circadian temperature homeostasis", "id": "GO:0060086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060086", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of gene expression via chromosomal CpG island demethylation", "id": "GO:0044029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044029", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "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": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "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": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "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": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "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": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "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": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "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": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to heparin", "id": "GO:0071504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071504", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of hormone biosynthetic process", "id": "GO:0046886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046886", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of progesterone biosynthetic process", "id": "GO:2000182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000182", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "regulation of protein sumoylation", "id": "GO:0033233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033233", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to mycophenolic acid", "id": "GO:0071506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071506", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "glomerular mesangial cell proliferation", "id": "GO:0072110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072110", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "positive regulation of glomerular metanephric mesangial cell proliferation", "id": "GO:0072303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072303", "evidence": [ { "database": "UniProtKB", "id": "P08046", "url": "https://www.uniprot.org/uniprotkb/P08046" } ], "pmid": "" }, { "name": "cellular response to interleukin-8", "id": "GO:0098759", "url": 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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:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "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:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "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:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "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 structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "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: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: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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "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:2596", "name": "larynx cancer", "description": "A respiratory system cancer that is located_in the larynx.", "url": "https://disease-ontology.org/term/DOID:2596", "evidence": [ { "id": "2596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2596" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "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:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "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: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:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID: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:480", "name": "movement disease", "description": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.", "url": "https://disease-ontology.org/term/DOID:480", "evidence": [ { "id": "480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:480" } ], "weight": 0.0 }, { "disease_id": "DOID:4906", "name": "small intestine adenocarcinoma", "description": "A small intestine carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4906", "evidence": [ { "id": "4906", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4906" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:615", "name": "leukopenia", "description": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.", "url": "https://disease-ontology.org/term/DOID:615", "evidence": [ { "id": "615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:615" } ], "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: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: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: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: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:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], 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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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": 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"https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with 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"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 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight 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"gene_names": "Gtf2i;6030441I21Rik;BAP-135;Bap135;Diws1t;Gtf2i;GtfII-I;Spin;TFII-I;WBSCR6", "protein_name": "General transcription factor II-I", "disease": [ { "disease_id": "DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9ESZ8", "url": "https://www.uniprot.org/uniprotkb/Q9ESZ8" } ], "pmid": "" }, { "name": "DNA-binding 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Partial loss of homooligomerization and pyroptosis; when associated with A-146 or with A-154, or with A-146 and A-154.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Arg154", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Complete loss of homooligomerization, lipid-binding, relocalization of Gasdermin-D, N-terminal to the plasma membrane and pyroptosis, as well as loss of bactericidal activity; when associated with A-138 or with S-138; A-146 and A-152. 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Abolished palmitoylation and ability to form a pore and mediate pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" }, { "database": "PubMed", "id": "32820063", "url": "https://glygen.org/publication/PubMed/32820063" }, { "database": "PubMed", "id": "38538834", "url": "https://glygen.org/publication/PubMed/38538834" }, { "database": "PubMed", "id": "38530158", "url": "https://glygen.org/publication/PubMed/38530158" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Leu193", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Lys237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on pyroptosis; when associated with A-239 or with A-239; A-248 and A-249.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Arg239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on pyroptosis; when associated with A-237 or with A-237; A-248 and A-249.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Arg248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on pyroptosis; when associated with A-237; A-239 and A-249.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Lys249", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on pyroptosis; when associated with A-237; A-239 and A-248.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Cys265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Leu273", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Impaired interaction and cleavage by CASP1.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "32553275", "url": "https://glygen.org/publication/PubMed/32553275" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asp276", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of CASP1-induced cleavage, pyroptosis and IL1B release. Does not impair interaction with CASP1. Loss of CASP4/CASP11-induced cleavage. 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Loss of CASP4/CASP11-induced cleavage. Abolished ability to induce pyroptosis following inactivation of MAP3K7/TAK1 by Yersinia toxin YopJ.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "26375259", "url": "https://glygen.org/publication/PubMed/26375259" }, { "database": "PubMed", "id": "26611636", "url": "https://glygen.org/publication/PubMed/26611636" }, { "database": "PubMed", "id": "30361383", "url": "https://glygen.org/publication/PubMed/30361383" }, { "database": "PubMed", "id": "32553275", "url": "https://glygen.org/publication/PubMed/32553275" }, { "database": "PubMed", "id": "30135078", "url": "https://glygen.org/publication/PubMed/30135078" }, { "database": "PubMed", "id": "38538834", "url": "https://glygen.org/publication/PubMed/38538834" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Leu292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Glu295", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Leu29", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Glu369", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Impaired interaction and cleavage by CASP1.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "32553275", "url": "https://glygen.org/publication/PubMed/32553275" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Tyr376", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "29576317", "url": "https://glygen.org/publication/PubMed/29576317" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ala380", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Cys39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of oligomerization of Gasdermin-D, N-terminal.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Ser470", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Ala474", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Disrupts intramolecular interactions and autoinhibition, leading to spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Cys57", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Leu60", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "G", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Cys77", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "27383986", "url": "https://glygen.org/publication/PubMed/27383986" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Phe81", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "D", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ile91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", "url": "https://glygen.org/publication/PubMed/31097341" } ] } ] }, { "uniprot_canonical_ac": "Q9D8T2-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Val95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Reduced homoolimerization, leading to reduced ability to induce pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q9D8T2", "url": "https://www.uniprot.org/uniprotkb/Q9D8T2" }, { "database": "PubMed", "id": "31097341", 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} ], "pmid": "" }, { "name": "monomeric IgA immunoglobulin complex", "id": "GO:0071748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071748", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEE1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEE1" } ], "pmid": "" }, { "name": "secretory IgA immunoglobulin complex", "id": "GO:0071751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071751", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEE1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEE1" } ], "pmid": "" }, { "name": "pentameric IgM immunoglobulin complex", "id": "GO:0071756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071756", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEE1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEE1" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEE1", 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"pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "trachea formation", "id": "GO:0060440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060440", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": "https://www.uniprot.org/uniprotkb/P63085" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "P63085", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of hemoglobin biosynthetic process", "id": "GO:0046985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046985", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of heterotypic cell-cell adhesion", "id": "GO:0034115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034115", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of response to cytokine stimulus", "id": "GO:0060761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060761", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "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": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "cellular response to laminar fluid shear stress", "id": "GO:0071499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071499", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "negative regulation of interleukin-8 production", "id": "GO:0032717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032717", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye development", "id": "GO:0031077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031077", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "defense response to tumor cell", "id": "GO:0002357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002357", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048730", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "post-embryonic hemopoiesis", "id": "GO:0035166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035166", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "regulation of blastocyst development", "id": "GO:0120222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120222", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity", "id": "GO:0001010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001010", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulator activity", "id": "GO:0035014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035014", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q60793", "url": "https://www.uniprot.org/uniprotkb/Q60793" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": 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Forms heterodimer with KLF5. No change in promoter-binding of target genes. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "rRNA methyltransferase activity", "id": "GO:0008649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008649", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "histone H2AQ104 methyltransferase activity", "id": "GO:1990259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990259", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "RNA 2'-O-methyltransferase activity", "id": "GO:0062105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062105", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "box C/D methylation guide snoRNP complex", "id": "GO:0031428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031428", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q80WS3", "url": "https://www.uniprot.org/uniprotkb/Q80WS3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80WS3-1" }, { "uniprot_canonical_ac": "P16056-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1379, "chemical_mass": 153549.0, "gene_names": "Met", "protein_name": "Hepatocyte growth factor receptor", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, 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"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:11119", "name": "Gilles de la Tourette syndrome", "description": "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.", "url": "https://disease-ontology.org/term/DOID:11119", "evidence": [ { "id": "11119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11119" } ], "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:11714", "name": 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"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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4465", "name": "papillary renal cell carcinoma", "description": "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.", "url": "https://disease-ontology.org/term/DOID:4465", "evidence": [ { "id": "4465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4465" } ], "weight": 0.0 }, { "disease_id": "DOID:4552", "name": "large cell carcinoma", "description": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.", "url": "https://disease-ontology.org/term/DOID:4552", "evidence": [ { "id": "4552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4552" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5577" } ], "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:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple 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"GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-threonine phosphorylation", "id": "GO:0010800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010800", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "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": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "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": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "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": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P16056", "url": "https://www.uniprot.org/uniprotkb/P16056" } ], "pmid": "" }, { "name": 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Inverts pH-dependent gating, with channel conductance being inhibited by acidic pH and activated by basic pH; when associated with Y-279, D-285, E-288 and L-290.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUW1", "url": "https://www.uniprot.org/uniprotkb/Q8BUW1" }, { "database": "PubMed", "id": "19667202", "url": "https://glygen.org/publication/PubMed/19667202" } ] } ] }, { "uniprot_canonical_ac": "Q8BUW1-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Ala285", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "No effect on extracellular pH sensing. Causes reduced inhibition induced by a pH shift from 7.2 to 8; when associated with S-279, S-284 and E-288. 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], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "M9MMJ7", "url": "https://www.uniprot.org/uniprotkb/M9MMJ7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "M9MMJ7", "url": "https://www.uniprot.org/uniprotkb/M9MMJ7" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "M9MMJ7", "url": "https://www.uniprot.org/uniprotkb/M9MMJ7" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "M9MMJ7", "url": "https://www.uniprot.org/uniprotkb/M9MMJ7" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "M9MMJ7", "url": "https://www.uniprot.org/uniprotkb/M9MMJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9MMJ7-1" }, { "uniprot_canonical_ac": "Q5GAN0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 147, "chemical_mass": 16902.0, "gene_names": "Ang6;Ang6;EG630952", "protein_name": "", "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:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060200", "name": "amyotrophic lateral sclerosis type 9", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.", "url": "https://disease-ontology.org/term/DOID:0060200", "evidence": [ { "id": "0060200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060200" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "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: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. 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"id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "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": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "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": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": "https://www.uniprot.org/uniprotkb/Q5GAN0" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q5GAN0", "url": 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"evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "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": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor 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"molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "leucine zipper domain binding", "id": "GO:0043522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043522", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "protein phosphatase 1 binding", "id": "GO:0008157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008157", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" }, { "name": "WD40-repeat domain binding", "id": "GO:0071987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071987", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P7S8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P7S8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A1W2P7S8-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Thr438", "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": 438, "start_aa": "Thr", "end_pos": 438, "end_aa": 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"https://www.alliancegenome.org/disease/DOID:750" } ], "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:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": 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"site_lbl": "Ser647", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B9EKR1", "url": "https://www.uniprot.org/uniprotkb/B9EKR1" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1640", "end_pos": "1640", "site_lbl": "Ile1640", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (IVS->NVS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23007357", "evidence": [ { "id": "rs3388821967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821967" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Pro59", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NSP->NSS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22959679", "evidence": [ { "id": "rs3388818245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388818245" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1018", "end_pos": "1018", "site_lbl": "Ala1018", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000963", "evidence": [ { "id": "rs262730713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262730713" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1042", "end_pos": "1042", "site_lbl": "Phe1042", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001036", "evidence": [ { "id": "rs3388822000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388822000" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1050", "end_pos": "1050", "site_lbl": "Ser1050", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001059", "evidence": [ { "id": "rs3388817386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817386" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1051", "end_pos": "1051", "site_lbl": "Lys1051", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001063", "evidence": [ { "id": "rs33748038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748038" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1052", "end_pos": "1052", "site_lbl": "Ser1052", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001065", "evidence": [ { "id": "rs3388811601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811601" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1087", "end_pos": "1087", "site_lbl": "His1087", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001170", "evidence": [ { "id": "rs3388824935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824935" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1088", "end_pos": "1088", "site_lbl": "Lys1088", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001174", "evidence": [ { "id": "rs3388812189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812189" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1093", "end_pos": "1093", "site_lbl": "Leu1093", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001190", "evidence": [ { "id": "rs3388815963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815963" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Asp109", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22961615", "evidence": [ { "id": "rs3396528498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396528498" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1100", "end_pos": "1100", "site_lbl": "Ile1100", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001211", "evidence": [ { "id": "rs3388817157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817157" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1109", "end_pos": "1109", "site_lbl": "Glu1109", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001238", "evidence": [ { "id": "rs3388817332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817332" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Gln1121", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001272", "evidence": [ { "id": "rs3388817127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817127" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Val1126", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001288", "evidence": [ { "id": "rs3388817304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817304" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1139", "end_pos": "1139", "site_lbl": "Ala1139", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001327", "evidence": [ { "id": "rs3388824874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824874" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1171", "end_pos": "1171", "site_lbl": "Pro1171", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001422", "evidence": [ { "id": "rs219256348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219256348" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1181", "end_pos": "1181", "site_lbl": "Ala1181", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001452", "evidence": [ { "id": "rs33748042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748042" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1184", "end_pos": "1184", "site_lbl": "Phe1184", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001463", "evidence": [ { "id": "rs3388810293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810293" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1201", "end_pos": "1201", "site_lbl": "Thr1201", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001512", "evidence": [ { "id": "rs3388797335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797335" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1206", "end_pos": "1206", "site_lbl": "Ala1206", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001527", "evidence": [ { "id": "rs3388810323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810323" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Ile1215", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001554", "evidence": [ { "id": "rs33748864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748864" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1219", "end_pos": "1219", "site_lbl": "Thr1219", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001566", "evidence": [ { "id": "rs3388805462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388805462" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1243", "end_pos": "1243", "site_lbl": "Met1243", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001638", "evidence": [ { "id": "rs3388812207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812207" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001639", "evidence": [ { "id": "rs33748866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748866" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1246", "end_pos": "1246", "site_lbl": "Phe1246", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001647", "evidence": [ { "id": "rs3388797254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797254" } ] }, { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001648", "evidence": [ { "id": "rs3388824939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824939" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "Ser1257", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001681", "evidence": [ { "id": "rs3396296866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396296866" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1289", "end_pos": "1289", "site_lbl": "Gln1289", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001778", "evidence": [ { "id": "rs265527632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265527632" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Phe128", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22961672", "evidence": [ { "id": "rs3388823422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823422" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1290", "end_pos": "1290", "site_lbl": "Val1290", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001779", "evidence": [ { "id": "rs3396610743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396610743" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1303", "end_pos": "1303", "site_lbl": "Ser1303", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001819", "evidence": [ { "id": "rs232312354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232312354" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1313", "end_pos": "1313", "site_lbl": "Pro1313", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001848", "evidence": [ { "id": "rs3388797296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797296" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1315", "end_pos": "1315", "site_lbl": "Lys1315", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001855", "evidence": [ { "id": "rs3396598264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396598264" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Val1321", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001873", "evidence": [ { "id": "rs33748868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748868" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1343", "end_pos": "1343", "site_lbl": "Asp1343", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001940", "evidence": [ { "id": "rs242842512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242842512" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001939", "evidence": [ { "id": "rs3388816306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816306" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1346", "end_pos": "1346", "site_lbl": "Ser1346", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001948", "evidence": [ { "id": "rs231947983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231947983" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001947", "evidence": [ { "id": "rs213419929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213419929" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1363", "end_pos": "1363", "site_lbl": "Leu1363", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23001998", "evidence": [ { "id": "rs239058890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239058890" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Ser1370", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002019", "evidence": [ { "id": "rs3388815953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815953" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002020", "evidence": [ { "id": "rs3388816260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816260" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1381", "end_pos": "1381", "site_lbl": "Pro1381", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002052", "evidence": [ { "id": "rs264001827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264001827" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Leu1384", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002061", "evidence": [ { "id": "rs33748870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748870" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1386", "end_pos": "1386", "site_lbl": "Met1386", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002069", "evidence": [ { "id": "rs237564997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237564997" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1411", "end_pos": "1411", "site_lbl": "Thr1411", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002143", "evidence": [ { "id": "rs257060065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257060065" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Asp1437", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002221", "evidence": [ { "id": "rs219687761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219687761" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Gly1441", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002233", "evidence": [ { "id": "rs33748872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33748872" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1455", "end_pos": "1455", "site_lbl": "Arg1455", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002275", "evidence": [ { "id": "rs3388824925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824925" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Asp1477", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002341", "evidence": [ { "id": "rs233249641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233249641" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1483", "end_pos": "1483", "site_lbl": "Leu1483", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002359", "evidence": [ { "id": "rs3388810241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810241" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1497", "end_pos": "1497", "site_lbl": "Thr1497", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002400", "evidence": [ { "id": "rs223506230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223506230" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Glu152", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22961744", "evidence": [ { "id": "rs3388810262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810262" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1536", "end_pos": "1536", "site_lbl": "Ala1536", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23002518", "evidence": [ { "id": "rs213541485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213541485" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Glu1629", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23007324", "evidence": [ { "id": "rs3388815948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815948" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1676", "end_pos": "1676", "site_lbl": "Pro1676", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23016185", "evidence": [ { "id": "rs242392059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242392059" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1678", "end_pos": "1678", "site_lbl": "Val1678", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23016191", "evidence": [ { "id": "rs3388797263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797263" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1694", "end_pos": "1694", "site_lbl": "Gly1694", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23022206", "evidence": [ { "id": "rs3413025477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413025477" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1735", "end_pos": "1735", "site_lbl": "Leu1735", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23024969", "evidence": [ { "id": "rs3396598272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396598272" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1736", "end_pos": "1736", "site_lbl": "Gly1736", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23024971", "evidence": [ { "id": "rs3396296853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396296853" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1741", "end_pos": "1741", "site_lbl": "Ser1741", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23024987", "evidence": [ { "id": "rs3388810238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810238" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1763", "end_pos": "1763", "site_lbl": "Arg1763", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23027844", "evidence": [ { "id": "rs3388811609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811609" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1882", "end_pos": "1882", "site_lbl": "Arg1882", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23033359", "evidence": [ { "id": "rs3388822022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388822022" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "1889", "end_pos": "1889", "site_lbl": "Thr1889", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23033379", "evidence": [ { "id": "rs3388817301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817301" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2069", "end_pos": "2069", "site_lbl": "Gly2069", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23042782", "evidence": [ { "id": "rs3388806351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806351" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2083", "end_pos": "2083", "site_lbl": "Tyr2083", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23044249", "evidence": [ { "id": "rs3388821992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821992" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2107", "end_pos": "2107", "site_lbl": "Ile2107", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23044321", "evidence": [ { "id": "rs220322813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220322813" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2137", "end_pos": "2137", "site_lbl": "Glu2137", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23045642", "evidence": [ { "id": "rs219184457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219184457" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2148", "end_pos": "2148", "site_lbl": "Leu2148", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23045673", "evidence": [ { "id": "rs5527473307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527473307" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2222", "end_pos": "2222", "site_lbl": "His2222", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050397", "evidence": [ { "id": "rs3388810291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810291" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2253", "end_pos": "2253", "site_lbl": "Lys2253", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050491", "evidence": [ { "id": "rs3388817339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817339" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2258", "end_pos": "2258", "site_lbl": "Met2258", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050506", "evidence": [ { "id": "rs3388812246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812246" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2262", "end_pos": "2262", "site_lbl": "Val2262", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23050517", "evidence": [ { "id": "rs3388812256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812256" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Asp226", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972769", "evidence": [ { "id": "rs3388817182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817182" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "2294", "end_pos": "2294", "site_lbl": "Ser2294", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23052053", "evidence": [ { "id": "rs3388824858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388824858" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972800", "evidence": [ { "id": "rs3388785427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785427" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Cys240", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972810", "evidence": [ { "id": "rs3388821976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388821976" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asp242", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972815", "evidence": [ { "id": "rs3388817353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817353" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Thr252", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22972846", "evidence": [ { "id": "rs3388785438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785438" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Ala261", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22973014", "evidence": [ { "id": "rs3388823431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823431" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Leu32", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22925865", "evidence": [ { "id": "rs3388801210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801210" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Arg334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22986202", "evidence": [ { "id": "rs3388817189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817189" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Val348", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22986243", "evidence": [ { "id": "rs3388801333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801333" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Asn377", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22987346", "evidence": [ { "id": "rs3388811629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811629" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Leu378", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22987348", "evidence": [ { "id": "rs3388815975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388815975" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Asp440", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999229", "evidence": [ { "id": "rs33746572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33746572" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Arg447", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999251", "evidence": [ { "id": "rs3388801354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801354" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Val450", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999260", "evidence": [ { "id": "rs237952711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237952711" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Met470", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999321", "evidence": [ { "id": "rs3388816300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816300" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Gly471", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999322", "evidence": [ { "id": "rs3388810242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388810242" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Arg485", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999365", "evidence": [ { "id": "rs3388806360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806360" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Gln521", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999474", "evidence": [ { "id": "rs3544079729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544079729" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Thr524", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999482", "evidence": [ { "id": "rs3388812253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812253" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Thr534", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999512", "evidence": [ { "id": "rs3388797248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797248" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Asn539", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999528", "evidence": [ { "id": "rs3388811670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811670" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Phe548", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999554", "evidence": [ { "id": "rs3388806337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806337" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ala557", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999580", "evidence": [ { "id": "rs3388816262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816262" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ile55", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22959669", "evidence": [ { "id": "rs264128020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264128020" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Glu567", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999612", "evidence": [ { "id": "rs3396598205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396598205" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Tyr568", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999615_22999619", "evidence": [ { "id": "rs3396559865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396559865" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Glu570", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999621", "evidence": [ { "id": "rs3388817387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817387" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Asp574", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999632", "evidence": [ { "id": "rs3388812245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388812245" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ser600", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999709", "evidence": [ { "id": "rs232430831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232430831" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Met621", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999773", "evidence": [ { "id": "rs266002249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs266002249" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Asp688", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "22999973", "evidence": [ { "id": "rs3388811641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811641" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Glu699", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000006", "evidence": [ { "id": "rs33747298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33747298" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Phe724", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000082", "evidence": [ { "id": "rs3388817327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817327" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Thr737", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000121", "evidence": [ { "id": "rs3388785479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785479" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Leu745", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000145", "evidence": [ { "id": "rs3388803742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388803742" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Asp799", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000306", "evidence": [ { "id": "rs3410966542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410966542" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Ala804", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000322", "evidence": [ { "id": "rs3388817383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817383" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "806", "end_pos": "806", "site_lbl": "Pro806", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000327", "evidence": [ { "id": "rs3388785465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388785465" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "839", "end_pos": "839", "site_lbl": "Met839", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000426", "evidence": [ { "id": "rs33747300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33747300" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Leu843", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000439", "evidence": [ { "id": "rs33747302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33747302" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "872", "end_pos": "872", "site_lbl": "Arg872", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "23000525", "evidence": [ { "id": "rs241043402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241043402" } ] } ] }, { "uniprot_canonical_ac": "B9EKR1-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Thr893", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "slit diaphragm", "id": "GO:0036057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036057", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "trans-synaptic protein complex", "id": "GO:0098820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098820", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098984", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" } ], "biological_process": [ { "name": "presynapse assembly", "id": "GO:0099054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099054", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "gephyrin clustering involved in postsynaptic density assembly", "id": "GO:0097116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097116", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "postsynaptic membrane assembly", "id": "GO:0097104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097104", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "signal transduction", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "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": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "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": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "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": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of synapse maturation", "id": "GO:0090129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090129", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "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": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission", "id": "GO:0099557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099557", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "trans-synaptic signaling, modulating synaptic transmission", "id": "GO:0099550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099550", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "vocalization behavior", "id": "GO:0071625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071625", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "neuroligin clustering involved in postsynaptic membrane assembly", "id": "GO:0097118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097118", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "vocal learning", "id": "GO:0042297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042297", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0045743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045743", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "postsynaptic density protein 95 clustering", "id": "GO:0097119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097119", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "vesicle docking involved in exocytosis", "id": "GO:0006904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006904", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:1900738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900738", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of grooming behavior", "id": "GO:2000821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000821", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106071", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of postsynaptic density assembly", "id": "GO:0099151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099151", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of postsynaptic specialization assembly", "id": "GO:0099150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099150", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission", "id": "GO:0150036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150036", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "positive regulation of cAMP/PKA signal transduction", "id": "GO:0141163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141163", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid receptor clustering", "id": "GO:0097112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097112", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "protein-containing complex assembly involved in synapse maturation", "id": "GO:0090126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090126", "evidence": [ { "database": "UniProtKB", "id": "Q9CS84", "url": "https://www.uniprot.org/uniprotkb/Q9CS84" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": 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"https://www.uniprot.org/uniprotkb/Q61144" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q61144", "url": "https://www.uniprot.org/uniprotkb/Q61144" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000059", "evidence": [ { "database": "UniProtKB", "id": "Q61144", "url": "https://www.uniprot.org/uniprotkb/Q61144" } ], "pmid": "" }, { "name": "endoplasmic reticulum calcium ion homeostasis", "id": "GO:0032469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032469", "evidence": [ { "database": "UniProtKB", "id": "Q61144", "url": "https://www.uniprot.org/uniprotkb/Q61144" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "negative regulation of platelet activation", "id": "GO:0010544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010544", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "paracrine signaling", "id": "GO:0038001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038001", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of glomerular filtration", "id": "GO:0003104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003104", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "metanephric glomerular mesangial cell proliferation involved in metanephros development", "id": "GO:0072262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072262", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P31240", "url": "https://www.uniprot.org/uniprotkb/P31240" } ], 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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: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. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043279", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "gallbladder development", "id": "GO:0061010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061010", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endocardium formation", "id": "GO:0060214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060214", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endodermal cell fate specification", "id": "GO:0001714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001714", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endodermal digestive tract morphogenesis", "id": "GO:0061031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061031", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "cardiac cell fate determination", "id": "GO:0060913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060913", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "rostrocaudal neural tube patterning", "id": "GO:0021903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021903", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "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": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling 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"positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q61473", "url": "https://www.uniprot.org/uniprotkb/Q61473" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", 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to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "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": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, 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"negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue development", "id": "GO:0048643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048643", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of synapse assembly", "id": "GO:0051963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "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": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of megakaryocyte differentiation", "id": "GO:0045652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045652", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of sarcomere organization", "id": "GO:0060297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060297", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "germinal center formation", "id": "GO:0002467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002467", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of dendritic spine development", "id": "GO:0060998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060998", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell differentiation", "id": "GO:2000727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000727", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to trichostatin A", "id": "GO:0035984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035984", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to parathyroid hormone stimulus", "id": "GO:0071374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071374", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cartilage morphogenesis", "id": "GO:0060536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "glomerulus morphogenesis", "id": "GO:0072102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072102", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of macrophage apoptotic process", "id": "GO:2000111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000111", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cell morphogenesis involved in neuron differentiation", "id": "GO:0048667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048667", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "regulation of germinal center formation", "id": "GO:0002634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002634", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cellular response to fluid shear stress", "id": "GO:0071498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071498", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle cell differentiation", "id": "GO:2001016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001016", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "renal tubule morphogenesis", "id": "GO:0061333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061333", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation in bone marrow", "id": "GO:0071864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071864", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in renal tubule morphogenesis", "id": "GO:2001013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001013", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial cell proliferation", "id": "GO:1905563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905563", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN5", "url": "https://www.uniprot.org/uniprotkb/Q8CFN5" } 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"" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "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": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": 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"pmid": "" }, { "name": "positive regulation of developmental growth", "id": "GO:0048639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048639", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "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": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of DNA metabolic process", "id": "GO:0051054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051054", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "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": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "transcytosis", "id": "GO:0045056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045056", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "regulation of JNK cascade", "id": "GO:0046328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046328", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of steroid hormone biosynthetic process", "id": "GO:0090031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090031", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of cytokinesis", "id": "GO:0032467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032467", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "male sex determination", "id": "GO:0030238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030238", "evidence": [ { "database": 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"GO:0010656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010656", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of cell cycle process", "id": "GO:0090068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090068", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "alphav-beta3 integrin-IGF-1-IGF1R complex", "id": "GO:0035867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035867", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": 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"https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone membrane", "id": "GO:0098844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098844", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "presynaptic endosome", "id": "GO:0098830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098830", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "early phagosome", "id": "GO:0032009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032009", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "cytoplasmic side of early endosome membrane", "id": "GO:0098559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098559", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "zymogen granule membrane", "id": "GO:0042589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042589", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" } ], "molecular_function": [ { "name": "GDP-dissociation inhibitor binding", "id": "GO:0051021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051021", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "guanyl nucleotide binding", "id": "GO:0019001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019001", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "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": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "regulation of endosome size", "id": "GO:0051036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051036", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "protein localization to early endosome", "id": "GO:1902946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902946", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "host-mediated perturbation of viral process", "id": "GO:0044788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044788", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "plasma membrane to endosome transport", "id": "GO:0048227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048227", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" }, { "name": "amyloid-beta clearance by transcytosis", "id": "GO:0150093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150093", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQD1-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" } ] } ] }, { "uniprot_canonical_ac": "Q9CQD1-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Inhibits endosome localization. Disrupts interaction of RAB5A and OCRL with INPP5F. Prevents its localization to apoptotic cell corpse-containing early phagosomes. Maturation of apoptotic cell-containing phagosome into acidic phagosomes is decreased. Interacts with PIK3C3.", "evidence": [ { "database": "UniProtKB", "id": "Q9CQD1", "url": "https://www.uniprot.org/uniprotkb/Q9CQD1" }, { "database": "PubMed", "id": "18425118", "url": "https://glygen.org/publication/PubMed/18425118" }, { "database": "PubMed", "id": "25869668", "url": "https://glygen.org/publication/PubMed/25869668" } ] } ] }, { "uniprot_canonical_ac": "Q9CQD1-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Gln79", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Induces the formation of larger endosomes. No effect on interaction with INPP5F. 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"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": 1389, "start_aa": "Asn", "end_pos": 1389, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1389", "evidence": [ { "id": "Q80X19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80X19#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNGSKPTSPEEVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "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": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "Q80X19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80X19#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1668", "end_pos": "1668", "site_lbl": "Thr1668", "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": 1668, "start_aa": "Thr", "end_pos": 1668, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1668", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1677", "end_pos": "1677", "site_lbl": "Thr1677", "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": 1677, "start_aa": "Thr", "end_pos": 1677, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1677", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1689", "end_pos": "1689", "site_lbl": "Thr1689", "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": 1689, "start_aa": "Thr", "end_pos": 1689, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1689", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Asn373", "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": 373, "start_aa": "Asn", "end_pos": 373, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn373", "evidence": [ { "id": "Q80X19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80X19#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Thr728", "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": 728, "start_aa": "Thr", "end_pos": 728, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr728", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "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": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "evidence": [ { "id": "Q80X19", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80X19#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1004", "end_pos": "1004", "site_lbl": "Gln1004", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55300476", "evidence": [ { "id": "rs3389312559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312559" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Tyr103", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55205179", "evidence": [ { "id": "rs3389358847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389358847" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1059", "end_pos": "1059", "site_lbl": "Thr1059", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55308048", "evidence": [ { "id": "rs3389331133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389331133" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "Arg1156", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55309676", "evidence": [ { "id": "rs3406473627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406473627" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1232", "end_pos": "1232", "site_lbl": "Lys1232", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55312135", "evidence": [ { "id": "rs214555672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214555672" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1242", "end_pos": "1242", "site_lbl": "Lys1242", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55312164", "evidence": [ { "id": "rs260416801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260416801" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1249", "end_pos": "1249", "site_lbl": "Gly1249", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55312184", "evidence": [ { "id": "rs3389361727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361727" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1295", "end_pos": "1295", "site_lbl": "Ile1295", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55313251", "evidence": [ { "id": "rs3389357691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357691" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1310", "end_pos": "1310", "site_lbl": "Leu1310", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55313297", "evidence": [ { "id": "rs3389341874", "database": "dbSNP", "url": 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] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Gly137", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55208325", "evidence": [ { "id": "rs3389354415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354415" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1424", "end_pos": "1424", "site_lbl": "Ser1424", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55327113", "evidence": [ { "id": "rs3389341914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389341914" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1426", "end_pos": "1426", "site_lbl": "Ser1426", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55327118", "evidence": [ { "id": "rs256355702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256355702" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1435", "end_pos": "1435", "site_lbl": "Glu1435", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55327145", "evidence": [ { "id": "rs3389281711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281711" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Lys1477", "weight": 0.0, "snv": [ { "sequence_org": "K", 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"dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361717" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1557", "end_pos": "1557", "site_lbl": "Pro1557", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351335", "evidence": [ { "id": "rs3389357758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357758" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1559", "end_pos": "1559", "site_lbl": "Lys1559", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351342", "evidence": [ { "id": "rs3389367148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389367148" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Pro1568", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351367", "evidence": [ { "id": "rs3389312526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312526" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1645", "end_pos": "1645", "site_lbl": "Ser1645", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55364816", "evidence": [ { "id": "rs3389312555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312555" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1699", "end_pos": "1699", "site_lbl": "Lys1699", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55379575", "evidence": [ { "id": "rs3389371495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389371495" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Phe16", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55192634", "evidence": [ { "id": "rs249018768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249018768" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1707", "end_pos": "1707", "site_lbl": "Ile1707", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55379599", "evidence": [ { "id": "rs3389357086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357086" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1714", "end_pos": "1714", "site_lbl": "Gly1714", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55379619", "evidence": [ { "id": "rs3389322400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389322400" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1773", "end_pos": "1773", "site_lbl": "Ser1773", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55383332", "evidence": [ { "id": "rs255277544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255277544" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1793", "end_pos": "1793", "site_lbl": "Trp1793", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55383391", "evidence": [ { "id": "rs3389354424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354424" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Leu17", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55192638", "evidence": [ { "id": "rs3389354447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354447" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ala18", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55192641", "evidence": [ { "id": "rs1134765368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134765368" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Lys251", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55229480", "evidence": [ { "id": "rs3389375022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389375022" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Pro279", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55229564", "evidence": [ { "id": "rs3389357707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357707" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "314", "end_pos": "314", "site_lbl": "His314", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55236027", "evidence": [ { "id": "rs3389350270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350270" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Thr326", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55236064", "evidence": [ { "id": "rs3389281677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281677" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ala348", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55236129", "evidence": [ { "id": "rs3389281723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281723" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55242983", "evidence": [ { "id": "rs3389363042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363042" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ser404", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244138", "evidence": [ { "id": "rs3406153595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406153595" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Thr408", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244151", "evidence": [ { "id": "rs51583746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51583746" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Thr430", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244217", "evidence": [ { "id": "rs3389350339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350339" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Gly437", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244238", "evidence": [ { "id": "rs3389281694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281694" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ala438", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244240", "evidence": [ { "id": "rs259970783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259970783" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Met460", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55245876", "evidence": [ { "id": "rs3389361645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361645" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Tyr473", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55245915", "evidence": [ { "id": "rs3389281674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281674" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Arg540", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55251963", "evidence": [ { "id": "rs3389375007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389375007" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Asn550", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55251994", "evidence": [ { "id": "rs3389357712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357712" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Arg553", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252002", "evidence": [ { "id": "rs3389281727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281727" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ala559", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252020", "evidence": [ { "id": "rs50697105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50697105" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Ser564", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252036", "evidence": [ { "id": "rs265408561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265408561" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Thr576", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252072", "evidence": [ { "id": "rs3406314643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406314643" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Glu610", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55270119", "evidence": [ { "id": "rs227742839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227742839" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Thr667", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55271248", "evidence": [ { "id": "rs3389362980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362980" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Glu703", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55272312", "evidence": [ { "id": "rs3389340321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389340321" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Ala709", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55272329", "evidence": [ { "id": "rs248768074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248768074" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Phe717", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55273581", "evidence": [ { "id": "rs246381178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246381178" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Val731", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55273624", "evidence": [ { "id": "rs3389354475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354475" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55273629", "evidence": [ { "id": "rs49340982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49340982" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Asp760", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55275044", "evidence": [ { "id": "rs3406214711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406214711" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Ser761", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55275048", "evidence": [ { "id": "rs3406010649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406010649" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Lys772", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55275080", "evidence": [ { "id": "rs48650824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48650824" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Leu77", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55205100", "evidence": [ { "id": "rs1131851224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131851224" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Gln78", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55205105", "evidence": [ { "id": "rs1135279046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135279046" } ] } ] }, { 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"Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "snRNA binding", "id": "GO:0017069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017069", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": 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"name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "CRD-mediated mRNA stabilization", "id": "GO:0070934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070934", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, 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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": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "dosage compensation by inactivation of X chromosome", "id": "GO:0009048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009048", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated heterochromatin formation", "id": "GO:0031048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031048", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "alternative mRNA splicing, via spliceosome", "id": "GO:0000380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000380", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "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": "Q8VEK3", "url": "https://www.uniprot.org/uniprotkb/Q8VEK3" } ], "pmid": "" }, { "name": "adaptive thermogenesis", "id": "GO:1990845", "url": 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"" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "P63158", "url": "https://www.uniprot.org/uniprotkb/P63158" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034145", "evidence": [ { "database": "UniProtKB", "id": "P63158", "url": "https://www.uniprot.org/uniprotkb/P63158" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 9 signaling pathway", "id": "GO:0034165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034165", "evidence": [ { "database": "UniProtKB", "id": "P63158", "url": "https://www.uniprot.org/uniprotkb/P63158" } ], "pmid": "" }, { "name": "negative regulation of apoptotic cell clearance", "id": "GO:2000426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000426", "evidence": [ { "database": "UniProtKB", "id": "P63158", 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"cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q811W2", "url": "https://www.uniprot.org/uniprotkb/Q811W2" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q811W2", "url": "https://www.uniprot.org/uniprotkb/Q811W2" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q811W2", "url": "https://www.uniprot.org/uniprotkb/Q811W2" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "Q811W2", "url": "https://www.uniprot.org/uniprotkb/Q811W2" } ], "pmid": "" }, { "name": "xenobiotic 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"fatal familial insomnia", "description": "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain.", "url": "https://disease-ontology.org/term/DOID:0050433", "evidence": [ { "id": "0050433", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050433" } ], "weight": 0.0 }, { "disease_id": "DOID:0090103", "name": "Huntington's disease-like 1", "description": "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:0090103", "evidence": [ { "id": "0090103", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090103" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", 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regulation of interleukin-2 production", "id": "GO:0032703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032703", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "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": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { 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"name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "RNA nuclear export complex", "id": "GO:0042565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042565", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62827-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": 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Partial decrease in RANBP10-binding. No effect on interaction with NEMP1 and KPNB1.", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" }, { "database": "PubMed", "id": "18347012", "url": "https://glygen.org/publication/PubMed/18347012" }, { "database": "PubMed", "id": "10811801", "url": "https://glygen.org/publication/PubMed/10811801" }, { "database": "PubMed", "id": "25946333", "url": "https://glygen.org/publication/PubMed/25946333" } ] } ] } ], "record_id": "P62827-1" }, { "uniprot_canonical_ac": "Q5RI75-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 708, "chemical_mass": 79548.0, "gene_names": "Rasef;RAB45;Rasef", "protein_name": "Ras and EF-hand domain-containing protein", "disease": [], "molecular_function": [ { "name": "GTPase 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"evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" }, { "name": "endolysosome", "id": "GO:0036019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036019", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" } ], "biological_process": [ { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" }, { "name": "zymogen granule exocytosis", "id": "GO:0070625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070625", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5RI75-3", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" }, { "database": "iPTMnet", "id": "Q5RI75", "url": 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"id": "0050469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050469" } ], "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:0060581", "name": "Noonan syndrome 3", "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene.", "url": "https://disease-ontology.org/term/DOID:0060581", "evidence": [ { "id": "0060581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060581" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras 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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:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "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", 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"url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "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:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3165", "name": "skin benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:3165", "evidence": [ { "id": "3165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3165" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID: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:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": "https://disease-ontology.org/term/DOID:591", "evidence": [ { "id": "591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:591" } ], "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:686", "name": "liver carcinoma", "description": "A liver cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:686", "evidence": [ { "id": "686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:686" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "T-helper 1 type immune response", "id": "GO:0042088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042088", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of miRNA metabolic process", "id": "GO:2000630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000630", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of ruffle assembly", "id": "GO:1900029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900029", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "oncogene-induced cell senescence", "id": "GO:0090402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090402", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "GTPase complex", "id": "GO:1905360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905360", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "GDP 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"url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "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": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "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": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", 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], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "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": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "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": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070266", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "ripoptosome assembly involved in necroptotic process", "id": "GO:1901026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901026", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of programmed necrotic cell death", "id": "GO:0062100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062100", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" } ], "molecular_function": [ { "name": "death domain 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Promotes activation of its kinase activity, proteolytic cleavage, ubiquitination and interaction with FADD to mediate apoptosis. Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-332; A-334 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Inhibits its proteolytic cleavage and interaction with FADD. Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-332; E-334 and E-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-321; A-334 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-321; E-334 and E-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-321; A-332 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-321; E-332 and E-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Tyr383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "35156314", "url": "https://glygen.org/publication/PubMed/35156314" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation. Does not protect cells from TNF-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phophomimetic mutant. Does not protect cells from TNF-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asp138", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished protein kinase activity and ability to regulate apoptosis and necroptosis. Knockin mice are viable.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "24557836", "url": "https://glygen.org/publication/PubMed/24557836" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827280", "url": "https://glygen.org/publication/PubMed/31827280" }, { "database": "PubMed", "id": "29440439", "url": "https://glygen.org/publication/PubMed/29440439" }, { "database": "PubMed", "id": "31827281", "url": "https://glygen.org/publication/PubMed/31827281" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Asp325", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of CASP8-mediated cleavage. Promotes both FADD-dependent apoptosis and RIPK3-dependent necroptosis, thus leading to embryonic lethality at midgestation stages in knockin mice. Heterozygous knockin mice are viable and grossly normal, but are hyperresponsive to inflammatory stimuli.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827281", "url": "https://glygen.org/publication/PubMed/31827281" }, { "database": "PubMed", "id": "30867408", "url": "https://glygen.org/publication/PubMed/30867408" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Loss of CASP8-mediated cleavage. Embryonic lethality in knockin mice. Promotes activation of the protein kinase activity, leading to increased cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827280", "url": "https://glygen.org/publication/PubMed/31827280" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Loss of CASP8-mediated cleavage. Embryonic lethality in knockin mice. Promotes activation of the protein kinase activity, leading to increased cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827280", "url": "https://glygen.org/publication/PubMed/31827280" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-321; A-332 and A-334.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-321; E-332 and E-334.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Lys376", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination. Decreases TNF-mediated NF-kappaB activation. Increases interaction with CFLAR, CASP8, FADD and RIPK3. Decreases interaction with MAP3K7. Enhances kinase activity and promotes apoptosis and necroptosis. Knockin mice display early embryonic lethality resulting from excessive cell death and severe inflammation.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31519887", "url": "https://glygen.org/publication/PubMed/31519887" }, { "database": "PubMed", "id": "31519886", "url": "https://glygen.org/publication/PubMed/31519886" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Lys45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity. Protects cells from TNF-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] }, { "sequence_org": "K", "sequence_mut": "M", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "29440439", "url": "https://glygen.org/publication/PubMed/29440439" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Lys584", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Blocks homodimerization, activation of its kinase activity, formation of complex IIa, necroptosis and apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "29440439", "url": "https://glygen.org/publication/PubMed/29440439" } ] } ] } ], "record_id": "Q60855-1" }, { "uniprot_canonical_ac": "Q9ERU9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3053, "chemical_mass": 341121.0, "gene_names": "Ranbp2;A430087B05Rik;NUP358;Ranbp2", "protein_name": "E3 SUMO-protein ligase RanBP2", "disease": [ { "disease_id": "DOID:0050905", "name": "inflammatory myofibroblastic tumor", "description": "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.", "url": "https://disease-ontology.org/term/DOID:0050905", "evidence": [ { "id": "0050905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050905" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "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 } ], "molecular_function": [ { "name": "kinase activator activity", "id": "GO:0019209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019209", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "SUMO ligase activity", "id": "GO:0061665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061665", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "SUMO transferase activity", "id": "GO:0019789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of RNA export from nucleus", "id": "GO:0046832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046832", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "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": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "protein sumoylation", "id": "GO:0016925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016925", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "regulation of gluconeogenesis", "id": "GO:0006111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006111", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "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": "Q9ERU9", "url": "https://www.uniprot.org/uniprotkb/Q9ERU9" } ], "pmid": "" }, { "name": "NLS-bearing protein import into nucleus", "id": "GO:0006607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006607", "evidence": [ { "database": "UniProtKB", "id": "Q9ERU9", 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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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "organic acid metabolic process", "id": "GO:0006082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006082", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "response to cesium ion", "id": "GO:0010164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010164", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "calcitriol biosynthetic process from calciol", "id": "GO:0036378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036378", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "small molecule metabolic process", "id": "GO:0044281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044281", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "vitamin D3 25-hydroxylase activity", "id": "GO:0030343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030343", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "D3 vitamins binding", "id": "GO:1902271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902271", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6VVW9-1" }, { "uniprot_canonical_ac": "Q9WUM3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 484, "chemical_mass": 53912.0, "gene_names": "Coro1b;Coro1b", "protein_name": "Coronin-1B", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "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": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "actin filament branching", "id": "GO:0090135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090135", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "ruffle organization", "id": "GO:0031529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031529", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell chemotaxis", "id": "GO:0071672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071672", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "negative regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034316", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" }, { "name": "protein localization to cell leading edge", "id": "GO:1902463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902463", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM3", "url": "https://www.uniprot.org/uniprotkb/Q9WUM3" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { 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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: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "vitamin D catabolic process", "id": "GO:0042369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042369", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "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": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "G1 to G0 transition", "id": "GO:0070314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070314", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "response to prostaglandin E", "id": "GO:0034695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034695", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "calcitriol biosynthetic process from calciol", "id": "GO:0036378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036378", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "positive regulation of vitamin D receptor signaling pathway", "id": "GO:0070564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070564", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "negative regulation of bone trabecula formation", "id": "GO:1900155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900155", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "positive regulation of parathyroid hormone secretion", "id": "GO:2000830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000830", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "calcidiol 1-monooxygenase activity", "id": "GO:0004498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004498", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "secalciferol 1-monooxygenase activity", "id": "GO:0062185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062185", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "O35084", "url": "https://www.uniprot.org/uniprotkb/O35084" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35084-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Thr438", "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": 438, "start_aa": "Thr", "end_pos": 438, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr438", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35084-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "10", "chr_pos": "126884256", "evidence": [ { "id": "rs239547653", 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"UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 514, "chemical_mass": 59453.0, "gene_names": "Cyp24a1;24-OHase;CP24;Cyp-24;Cyp24a1;Cyp24", "protein_name": "1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A 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"database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q64441-1" }, { "uniprot_canonical_ac": "Q64481-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64481", "url": "https://www.uniprot.org/uniprotkb/Q64481" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 57870.0, "gene_names": "Cyp3a16;Cyp3a-16;Cyp3a16", "protein_name": "Cytochrome P450 3A16", "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 spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": 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"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:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "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", 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"name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "Q8K445", "url": "https://www.uniprot.org/uniprotkb/Q8K445" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q8K445", "url": "https://www.uniprot.org/uniprotkb/Q8K445" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q8K445", "url": "https://www.uniprot.org/uniprotkb/Q8K445" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q8K445", "url": "https://www.uniprot.org/uniprotkb/Q8K445" } ], "pmid": 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"url": "https://www.uniprot.org/uniprotkb/Q8CI04" } ] } ] } ], "record_id": "Q8CI04-1" }, { "uniprot_canonical_ac": "Q8BIG7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BIG7", "url": "https://www.uniprot.org/uniprotkb/Q8BIG7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 262, "chemical_mass": 28961.0, "gene_names": "Comtd1;1810030M08Rik;Comtd1;MT773", "protein_name": "Catechol O-methyltransferase domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BIG7", "url": "https://www.uniprot.org/uniprotkb/Q8BIG7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BIG7", "url": 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"Asn190", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENCTAYYER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "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": "Q8BIG7-1" }, { "uniprot_canonical_ac": "P09174-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], 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"cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" }, { "name": "photoreceptor outer segment membrane", "id": "GO:0042622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042622", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P09174", "url": "https://www.uniprot.org/uniprotkb/P09174" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P09174-1" }, { "uniprot_canonical_ac": "P21844-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21844", "url": "https://www.uniprot.org/uniprotkb/P21844" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 247, "chemical_mass": 27586.0, "gene_names": "Cma1;Cma1;MMCP-5;Mcp-5;Mcp5;Mcpt5", "protein_name": "Chymase", "disease": [ { "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "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: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 } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P21844", "url": "https://www.uniprot.org/uniprotkb/P21844" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": 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"molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9D9N5", "url": "https://www.uniprot.org/uniprotkb/Q9D9N5" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9D9N5", "url": "https://www.uniprot.org/uniprotkb/Q9D9N5" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9D9N5", "url": "https://www.uniprot.org/uniprotkb/Q9D9N5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D9N5-1" }, { "uniprot_canonical_ac": "Q9ET38-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ET38", "url": 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"https://www.uniprot.org/uniprotkb/Q9ET38" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "Q9ET38", "url": "https://www.uniprot.org/uniprotkb/Q9ET38" } ], "pmid": "" }, { "name": "neuronal action potential propagation", "id": "GO:0019227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019227", "evidence": [ { "database": "UniProtKB", "id": "Q9ET38", "url": "https://www.uniprot.org/uniprotkb/Q9ET38" } ], "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": "Q9ET38", "url": "https://www.uniprot.org/uniprotkb/Q9ET38" } ], "pmid": "" }, { "name": "tight junction organization", "id": "GO:0120193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120193", "evidence": [ { 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The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "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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"https://www.uniprot.org/uniprotkb/P33587" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P33587", "url": "https://www.uniprot.org/uniprotkb/P33587" } ], "pmid": "" }, { "name": "positive regulation of establishment of endothelial barrier", "id": "GO:1903142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903142", "evidence": [ { "database": "UniProtKB", "id": "P33587", "url": "https://www.uniprot.org/uniprotkb/P33587" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P33587", "url": "https://www.uniprot.org/uniprotkb/P33587" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": 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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:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. 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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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "cytoplasmic side of endoplasmic reticulum membrane", "id": "GO:0098554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098554", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": 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} ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "sorting endosome", "id": "GO:0097443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097443", "evidence": [ { "database": "UniProtKB", "id": "P35821", "url": "https://www.uniprot.org/uniprotkb/P35821" } ], "pmid": "" }, { "name": "mitochondrial crista", "id": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 105, "chemical_mass": 11678.0, "gene_names": "Prok1;EG-VEGF;Pk1;Prok1", "protein_name": "Prokineticin-1", "disease": [], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q14A28", "url": "https://www.uniprot.org/uniprotkb/Q14A28" } ], "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": "Q14A28", "url": "https://www.uniprot.org/uniprotkb/Q14A28" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q14A28", "url": "https://www.uniprot.org/uniprotkb/Q14A28" } ], "pmid": "" }, { "name": "circadian 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[], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U4I7-1" }, { "uniprot_canonical_ac": "Q3U5C7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": 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Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Cys141", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. 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Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Cys169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "F", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Cys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Cys189", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Cys210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No change in receptor activity in response to MTMT binding in the presence of copper. Decreased receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No change in receptor activity in response to MTMT binding in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "243", "end_pos": "243", "site_lbl": "His243", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "K", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Cys254", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Arg260", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Lys269", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "K", "sequence_mut": "H", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Met298", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "300", "end_pos": "300", "site_lbl": "His300", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "K", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Cys307", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "56", "end_pos": "56", "site_lbl": "His56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "K", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Met59", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "73", "end_pos": "73", "site_lbl": "His73", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "F", "comment": "No change in receptor activity in response to MTMT binding. No change in the copper-induced enhancement of receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "K", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "No change in receptor activity in response to MTMT binding. No change in the copper-induced enhancement of receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Cys97", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] } ], "record_id": "Q7TQQ0-1" }, { "uniprot_canonical_ac": "K7N6P1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N6P1", "url": "https://www.uniprot.org/uniprotkb/K7N6P1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 191, "chemical_mass": 21166.0, "gene_names": "Rhox2h;Rhox2.8;Rhox2g;Rhox2h", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "K7N6P1", "url": "https://www.uniprot.org/uniprotkb/K7N6P1" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "K7N6P1", "url": "https://www.uniprot.org/uniprotkb/K7N6P1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "K7N6P1", "url": "https://www.uniprot.org/uniprotkb/K7N6P1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": 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"" }, { "name": "regulation of hematopoietic stem cell differentiation", "id": "GO:1902036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902036", "evidence": [ { "database": "UniProtKB", "id": "Q91VU7", "url": "https://www.uniprot.org/uniprotkb/Q91VU7" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q91VU7", "url": "https://www.uniprot.org/uniprotkb/Q91VU7" } ], "pmid": "" }, { "name": "pseudouridine synthesis", "id": "GO:0001522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001522", "evidence": [ { "database": "UniProtKB", "id": "Q91VU7", "url": "https://www.uniprot.org/uniprotkb/Q91VU7" } ], "pmid": "" }, { "name": "mRNA pseudouridine synthesis", "id": "GO:1990481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990481", "evidence": [ { "database": "UniProtKB", "id": "Q91VU7", "url": "https://www.uniprot.org/uniprotkb/Q91VU7" } ], 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