[ { "uniprot_canonical_ac": "Q8BWQ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWQ1", "url": "https://www.uniprot.org/uniprotkb/Q8BWQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 534, "chemical_mass": 61119.0, "gene_names": "Ugt2a3;2010321J07Rik;Ugt2a3", "protein_name": "UDP-glucuronosyltransferase 2A3", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BWQ1", "url": "https://www.uniprot.org/uniprotkb/Q8BWQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q8BWQ1", "url": "https://www.uniprot.org/uniprotkb/Q8BWQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "Q8BWQ1", "url": "https://www.uniprot.org/uniprotkb/Q8BWQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Asn102", "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": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "Q8BWQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BWQ1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Asn204", "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": 204, "start_aa": "Asn", "end_pos": 204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn204", "evidence": [ { "id": "Q8BWQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BWQ1#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NMT->KMT); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484411", "evidence": [ { "id": "rs257957325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257957325" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Lys110", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484694", "evidence": [ { "id": "rs31683024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31683024" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ile126", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484646", "evidence": [ { "id": "rs3388764233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388764233" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Cys127", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484644", "evidence": [ { "id": "rs3388775363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775363" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484637", "evidence": [ { "id": "rs215977874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215977874" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Val130", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484634", "evidence": [ { "id": "rs31682093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31682093" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484635", "evidence": [ { "id": "rs3388762909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762909" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Leu131", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484632", "evidence": [ { "id": "rs3388769649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769649" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Arg141", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484601", "evidence": [ { "id": "rs3507785102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507785102" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Pro152", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484568", "evidence": [ { "id": "rs3388739736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739736" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Pro167", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484524", "evidence": [ { "id": "rs3388764206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388764206" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Val169", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484518", "evidence": [ { "id": "rs3543667438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543667438" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "183", "end_pos": "183", "site_lbl": "His183", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484474", "evidence": [ { "id": "rs3388775389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775389" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Gln186", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484467", "evidence": [ { "id": "rs243638080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243638080" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484400", "evidence": [ { "id": "rs3388766861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388766861" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Met215", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484380", "evidence": [ { "id": "rs3388757300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757300" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Phe22", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484959", "evidence": [ { "id": "rs3388764264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388764264" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Lys248", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87479205", "evidence": [ { "id": "rs3388775379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775379" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Thr249", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87479202_87479203insACCTCAACCA", "evidence": [ { "id": "rs3388761580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388761580" } ] }, { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87479201", "evidence": [ { "id": "rs3388769454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769454" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87479201", "evidence": [ { "id": "rs3388769454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769454" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Lys252", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87479193", "evidence": [ { "id": "rs13469959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13469959" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Gln359", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87475556", "evidence": [ { "id": "rs1134281378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134281378" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Asp361", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87475550", "evidence": [ { "id": "rs1132002621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132002621" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Gly364", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87475541", "evidence": [ { "id": "rs1135121790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135121790" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87484910", "evidence": [ { "id": "rs3388769442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769442" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87474964", "evidence": [ { "id": "rs3395857845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395857845" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Gln452", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473562", "evidence": [ { "id": "rs3388749943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749943" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Pro453", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473559", "evidence": [ { "id": "rs3388753166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388753166" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Leu457", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473546", "evidence": [ { "id": "rs3388768577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388768577" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Ala480", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473478", "evidence": [ { "id": "rs5527239816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527239816" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Ile507", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473396", "evidence": [ { "id": "rs255453645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255453645" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Thr509", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473391", "evidence": [ { "id": "rs31688629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31688629" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Phe511", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473383", "evidence": [ { "id": "rs3388775419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775419" } ] } ] }, { "uniprot_canonical_ac": "Q8BWQ1-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Met527", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "87473335", "evidence": [ { "id": "rs3388739706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739706" } ] } ] }, { 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"uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Phe116", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361573", "evidence": [ { "id": "rs1133205862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133205862" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361572", "evidence": [ { "id": "rs3389323537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389323537" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Asp118", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361579", "evidence": [ { "id": "rs1133566940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133566940" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Gln122", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361591", "evidence": [ { "id": "rs1134873795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134873795" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Asp131", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361618", "evidence": [ { "id": "rs3551546788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546788" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Leu13", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335817", "evidence": [ { "id": "rs3551546750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546750" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Met146", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361663", "evidence": [ { "id": "rs3551538812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551538812" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Leu148", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361667", "evidence": [ { "id": "rs233012578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233012578" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361667", "evidence": [ { "id": "rs233012578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233012578" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Phe14", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335820", "evidence": [ { "id": "rs3551456442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551456442" } ] }, { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335821", "evidence": [ { "id": "rs13467477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13467477" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361673", "evidence": [ { "id": "rs3551742015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551742015" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ile153", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361684", "evidence": [ { "id": "rs3389368354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389368354" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361683", "evidence": [ { "id": "rs3551526675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551526675" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Glu155", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361690", "evidence": [ { "id": "rs3389358081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389358081" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Arg160", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361704", "evidence": [ { "id": "rs3551741834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551741834" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Met172", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361741", "evidence": [ { "id": "rs244113921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244113921" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Gly175", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361748", "evidence": [ { "id": "rs3389358127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389358127" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361758", "evidence": [ { "id": "rs3551491240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551491240" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Tyr183", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361773", "evidence": [ { "id": "rs3389368387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389368387" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Tyr187", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361786", "evidence": [ { "id": "rs3389347788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347788" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Gly188", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361787", "evidence": [ { "id": "rs3551456430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551456430" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ile18", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335832", "evidence": [ { "id": "rs229247973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229247973" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Leu19", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335836", "evidence": [ { "id": "rs3551524682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551524682" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Leu20", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335839", "evidence": [ { "id": "rs3551429905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551429905" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Asp222", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361891", "evidence": [ { "id": "rs50743402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50743402" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361896", "evidence": [ { "id": "rs3551464204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551464204" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Val230", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361914", "evidence": [ { "id": "rs1133846940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133846940" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Glu231", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361918", "evidence": [ { "id": "rs3551419217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551419217" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Gln234", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361926", "evidence": [ { "id": "rs226520144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226520144" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Asp239", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361942", "evidence": [ { "id": "rs3551464236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551464236" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Trp247", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9361965", "evidence": [ { "id": "rs3389355248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355248" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Pro278", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9362058", "evidence": [ { "id": "rs3551464466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551464466" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335860", "evidence": [ { "id": "rs3389368363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389368363" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Asn285", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9365241", "evidence": [ { "id": "rs3551546828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546828" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Asp292", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9365264", "evidence": [ { "id": "rs3551435142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551435142" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Leu297", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9365278", "evidence": [ { "id": "rs3389354981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354981" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335865", "evidence": [ { "id": "rs3389316006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389316006" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335866", "evidence": [ { "id": "rs3551429809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551429809" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ile303", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9365296", "evidence": [ { "id": "rs3551429723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551429723" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Thr30", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9335869", "evidence": [ { "id": "rs3389342298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389342298" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9338733", "evidence": [ { "id": "rs3508071048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508071048" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Thr333", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9365386", "evidence": [ { "id": "rs3551592263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551592263" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ala33", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9338735", "evidence": [ { "id": "rs3508075098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508075098" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Thr355", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9365452", "evidence": [ { "id": "rs3551419072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551419072" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Thr368", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367360", "evidence": [ { "id": "rs3405730459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405730459" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Gly371", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367370", "evidence": [ { "id": "rs3405754634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405754634" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Met372", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367374", "evidence": [ { "id": "rs3406114685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406114685" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367373", "evidence": [ { "id": "rs3405730416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405730416" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Asn373", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367377", "evidence": [ { "id": "rs3389368362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389368362" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "380", "end_pos": "380", "site_lbl": "His380", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367398", "evidence": [ { "id": "rs255906134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255906134" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Pro389", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367423", "evidence": [ { "id": "rs3389355015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355015" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367423", "evidence": [ { "id": "rs3389355015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355015" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Phe392", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367433", "evidence": [ { "id": "rs3551540333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551540333" } ] }, { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367434", "evidence": [ { "id": "rs3551546908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546908" } ] }, { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367432", "evidence": [ { "id": "rs3551429931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551429931" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Asp393", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367435", "evidence": [ { "id": "rs3389305932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389305932" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Glu396", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367446", "evidence": [ { "id": "rs48165358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48165358" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Glu402", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367463", "evidence": [ { "id": "rs3389348066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389348066" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9338756", "evidence": [ { "id": "rs3508077628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508077628" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ala421", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367519", "evidence": [ { "id": "rs51679615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51679615" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367520", "evidence": [ { "id": "rs248640896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248640896" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Lys426", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367534", "evidence": [ { "id": "rs263044224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263044224" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ile427", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367537", "evidence": [ { "id": "rs232448929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232448929" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Val42", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9338761", "evidence": [ { "id": "rs3389350393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350393" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Lys431", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367551", "evidence": [ { "id": "rs3389305970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389305970" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9367549", "evidence": [ { "id": "rs254943019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254943019" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370160", "evidence": [ { "id": "rs265592129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265592129" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ala439", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370173", "evidence": [ { "id": "rs3389354990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354990" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "445", "end_pos": "445", "site_lbl": "His445", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370190", "evidence": [ { "id": "rs3551667047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551667047" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Ala452", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370212", "evidence": [ { "id": "rs3551546958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546958" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Leu456", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370223", "evidence": [ { "id": "rs3551546810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546810" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Gly466", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370254", "evidence": [ { "id": "rs3551435119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551435119" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Leu490", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370325", "evidence": [ { "id": "rs3551456350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551456350" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Leu497", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370346", "evidence": [ { "id": "rs3551546707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551546707" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Gly498", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370349", "evidence": [ { "id": "rs3551491133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551491133" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Leu500", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370355", "evidence": [ { "id": "rs3389350371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350371" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370364", "evidence": [ { "id": "rs3551433404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551433404" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Leu507", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370376", "evidence": [ { "id": "rs3551526634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551526634" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Val508", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370380", "evidence": [ { "id": "rs3551464072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551464072" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Ala509", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370383", "evidence": [ { "id": "rs3551592633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551592633" } ] } ] }, { "uniprot_canonical_ac": "Q8JZZ0-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Val510", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "15", "chr_pos": "9370385", "evidence": [ { "id": "rs3405752459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405752459" } ] } ] }, { 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"evidence": [ { "database": "UniProtKB", "id": "P0CG49", "url": "https://www.uniprot.org/uniprotkb/P0CG49" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P0CG49", "url": "https://www.uniprot.org/uniprotkb/P0CG49" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P0CG49", "url": "https://www.uniprot.org/uniprotkb/P0CG49" } ], "pmid": "" }, { "name": "protein tag activity", "id": "GO:0031386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031386", "evidence": [ { "database": "UniProtKB", "id": "P0CG49", "url": "https://www.uniprot.org/uniprotkb/P0CG49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0CG49-1", "start_pos": "293", "end_pos": "293", 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"id": "P0CG49", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG49" } ] } ] }, { "uniprot_canonical_ac": "P0CG49-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0CG49", "url": "https://www.uniprot.org/uniprotkb/P0CG49" } ] } ] }, { "uniprot_canonical_ac": "P0CG49-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0CG49", "url": "https://www.uniprot.org/uniprotkb/P0CG49" } ] } ] } ], "record_id": "P0CG49-1" }, { "uniprot_canonical_ac": "P35456-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 327, "chemical_mass": 35428.0, "gene_names": "Plaur;Cd87;Plaur;u-PAR;uPAR", "protein_name": "Urokinase plasminogen activator surface receptor", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "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:11729", "name": "Lyme disease", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.", "url": "https://disease-ontology.org/term/DOID:11729", "evidence": [ { "id": "11729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11729" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9471", "name": "meningitis", "description": "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.", "url": "https://disease-ontology.org/term/DOID:9471", "evidence": [ { "id": "9471", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9471" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "urokinase plasminogen activator receptor activity", "id": "GO:0030377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030377", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" } ], "biological_process": [ { "name": "urokinase plasminogen activator signaling pathway", "id": "GO:0038195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038195", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "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": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "regulation of fibrinolysis", "id": "GO:0051917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051917", "evidence": [ { "database": "UniProtKB", "id": "P35456", "url": "https://www.uniprot.org/uniprotkb/P35456" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": 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"Q63886-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 535, "chemical_mass": 60047.0, "gene_names": "Ugt1a1;Gnt1;UDPGT 1-1;UGT1A01;Udpgt-1a;Ugt1a1;Ugt1;UgtBr1", "protein_name": "UDP-glucuronosyltransferase 1A1", "disease": [ { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:11151", "name": "cholecystolithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:11151", "evidence": [ { "id": "11151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11151" } ], "weight": 0.0 }, { "disease_id": 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"https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "heme catabolic process", "id": "GO:0042167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042167", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": 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}, { "name": "flavonoid metabolic process", "id": "GO:0009812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009812", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "biphenyl catabolic process", "id": "GO:0070980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070980", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "connective tissue replacement", "id": "GO:0097709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097709", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "pigment accumulation", "id": "GO:0043476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043476", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum chaperone complex", "id": "GO:0034663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034663", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q63886", "url": "https://www.uniprot.org/uniprotkb/Q63886" } ], "pmid": "" }, { "name": "endoplasmic reticulum 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"id": "rs52038456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs52038456" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ala185", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140277", "evidence": [ { "id": "rs45925453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45925453" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Val190", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140291", "evidence": [ { "id": "rs3539466418", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q63886-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Asn214", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140365", "evidence": [ { "id": "rs3539462596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539462596" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Val219", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140379", "evidence": [ { "id": "rs3539469091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539469091" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Met224", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140394", "evidence": [ { "id": "rs3388485408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485408" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Cys225", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140398", "evidence": [ { "id": "rs3388485383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485383" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140412", "evidence": [ { "id": "rs3388485847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485847" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140411", "evidence": [ { "id": "rs3388486478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486478" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Tyr232", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140418", "evidence": [ { "id": "rs49839149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49839149" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Glu243", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140451", "evidence": [ { "id": "rs3388488573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488573" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Gln247", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140462", "evidence": [ { "id": "rs47467070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47467070" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Leu249", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140468", "evidence": [ { "id": "rs45901627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45901627" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ile255", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140486", "evidence": [ { "id": "rs3539462611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539462611" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Asp261", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140506", "evidence": [ { "id": "rs3388485146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485146" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ile270", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140532", "evidence": [ { "id": "rs3388486725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486725" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Asn281", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140564", "evidence": [ { "id": "rs3388488536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488536" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Pro287", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140583", "evidence": [ { "id": "rs3539457576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457576" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "28", "end_pos": "28", "site_lbl": "His28", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88139806", "evidence": [ { "id": "rs108359412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108359412" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Gln290", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88140593", "evidence": [ { "id": "rs3411548020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411548020" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ala294", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142776", "evidence": [ { "id": "rs3388485785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485785" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Glu301", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142796", "evidence": [ { "id": "rs3539454443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454443" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Pro317", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142844", "evidence": [ { "id": "rs3539457645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457645" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Arg31", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88139815", "evidence": [ { "id": "rs47888099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47888099" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Arg330", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142884", "evidence": [ { "id": "rs3539455042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539455042" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142896", "evidence": [ { "id": "rs47208592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47208592" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Val335", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143517", "evidence": [ { "id": "rs3539457654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457654" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ser345", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143548", "evidence": [ { "id": "rs1133694053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133694053" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Leu353", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143571", "evidence": [ { "id": "rs3539459893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539459893" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Trp356", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143580", "evidence": [ { "id": "rs3388484765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484765" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Pro358", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143587", "evidence": [ { "id": "rs3539454069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454069" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Phe35", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88139827", "evidence": [ { "id": "rs3388484932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484932" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "365", "end_pos": "365", "site_lbl": "His365", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143862", "evidence": [ { "id": "rs3388486417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486417" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Thr373", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143887", "evidence": [ { "id": "rs48157063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48157063" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "378", "end_pos": "378", "site_lbl": "His378", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143901", "evidence": [ { "id": "rs46352019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46352019" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Pro389", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143935", "evidence": [ { "id": "rs49604602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49604602" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Gly39", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88139839", "evidence": [ { "id": "rs3539466572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539466572" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ala403", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143976", "evidence": [ { "id": "rs48308731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48308731" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Arg405", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143982", "evidence": [ { "id": "rs3388485503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485503" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143983", "evidence": [ { "id": "rs49274850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49274850" } ] } ] }, { "uniprot_canonical_ac": "Q63886-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Arg409", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] } ] }, { 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30306552" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ala290", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142776", "evidence": [ { "id": "rs3388485785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485785" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Glu297", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142796", "evidence": [ { "id": "rs3539454443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454443" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Pro313", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142844", "evidence": [ { "id": "rs3539457645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457645" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Arg326", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142884", "evidence": [ { "id": "rs3539455042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539455042" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142896", "evidence": [ { "id": "rs47208592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47208592" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Val331", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143517", "evidence": [ { "id": "rs3539457654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457654" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143548", "evidence": [ { "id": "rs1133694053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133694053" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Leu349", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143571", "evidence": [ { "id": "rs3539459893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539459893" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Trp352", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143580", "evidence": [ { "id": "rs3388484765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484765" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Pro354", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143587", "evidence": [ { "id": "rs3539454069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454069" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "361", "end_pos": "361", "site_lbl": "His361", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143862", "evidence": [ { "id": "rs3388486417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486417" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Thr369", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143887", "evidence": [ { "id": "rs48157063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48157063" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "374", "end_pos": "374", "site_lbl": "His374", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143901", "evidence": [ { "id": "rs46352019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46352019" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Pro385", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143935", "evidence": [ { "id": "rs49604602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49604602" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Ala399", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143976", "evidence": [ { "id": "rs48308731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48308731" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Arg401", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143982", "evidence": [ { "id": "rs3388485503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485503" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143983", "evidence": [ { "id": "rs49274850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49274850" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Arg405", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Ala424", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88144051", "evidence": [ { "id": "rs3539461379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539461379" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Lys435", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145853", "evidence": [ { "id": "rs3388484939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484939" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Arg440", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145868", "evidence": [ { "id": "rs47490282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47490282" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Val45", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88022976", "evidence": [ { "id": "rs3388486194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486194" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Arg465", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145943", "evidence": [ { "id": "rs3388484946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484946" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Lys467", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145951", "evidence": [ { "id": "rs3388485634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485634" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "471", "end_pos": "471", "site_lbl": "His471", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145962", "evidence": [ { "id": "rs49647345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49647345" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Arg473", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145967", "evidence": [ { "id": "rs50150817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50150817" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Pro474", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145971", "evidence": [ { "id": "rs49527860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49527860" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ala476", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145976", "evidence": [ { "id": "rs49572031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49572031" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Gln483", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145999", "evidence": [ { "id": "rs3539455393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539455393" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Tyr484", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146001", "evidence": [ { "id": "rs46635214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46635214" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "485", "end_pos": "485", "site_lbl": "His485", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146005", "evidence": [ { "id": "rs47264151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47264151" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Phe492", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146025", "evidence": [ { "id": "rs3539452646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539452646" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Leu49", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88022987", "evidence": [ { "id": "rs30307130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30307130" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Val504", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146060", "evidence": [ { "id": "rs3539454537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454537" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Phe505", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146063", "evidence": [ { "id": "rs3388486245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486245" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Gly511", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88146082", "evidence": [ { "id": "rs46776285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46776285" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Lys51", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88022994", "evidence": [ { "id": "rs49040182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49040182" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQM8-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Arg521", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": 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{ "name": "protein K48-linked deubiquitination", "id": "GO:0071108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071108", "evidence": [ { "database": "UniProtKB", "id": "Q9ES63", "url": "https://www.uniprot.org/uniprotkb/Q9ES63" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "Q9ES63", "url": "https://www.uniprot.org/uniprotkb/Q9ES63" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "Q9ES63", "url": "https://www.uniprot.org/uniprotkb/Q9ES63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ES63-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Cys298", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Impaired ability to mediate deubiquitination of CGAS.", "evidence": [ { "database": "UniProtKB", "id": "Q9ES63", "url": "https://www.uniprot.org/uniprotkb/Q9ES63" }, { "database": "PubMed", "id": "32457395", "url": "https://glygen.org/publication/PubMed/32457395" } ] } ] } ], "record_id": "Q9ES63-1" }, { "uniprot_canonical_ac": "Q9JKB1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKB1", "url": "https://www.uniprot.org/uniprotkb/Q9JKB1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 230, "chemical_mass": 26152.0, "gene_names": "Uchl3;UCH-L3;Uchl3", "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L3", "disease": [ { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": 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"cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JKB1", "url": "https://www.uniprot.org/uniprotkb/Q9JKB1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JKB1", "url": "https://www.uniprot.org/uniprotkb/Q9JKB1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JKB1", "url": "https://www.uniprot.org/uniprotkb/Q9JKB1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JKB1", "url": "https://www.uniprot.org/uniprotkb/Q9JKB1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein deubiquitination", "id": 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"name": "regulation of cholesterol efflux", "id": "GO:0010874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010874", "evidence": [ { "database": "UniProtKB", "id": "F6W8I0", "url": "https://www.uniprot.org/uniprotkb/F6W8I0" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "F6W8I0", "url": "https://www.uniprot.org/uniprotkb/F6W8I0" } ], "pmid": "" }, { "name": "membrane raft distribution", "id": "GO:0031580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031580", "evidence": [ { "database": "UniProtKB", "id": "F6W8I0", "url": "https://www.uniprot.org/uniprotkb/F6W8I0" } ], "pmid": "" } ], "molecular_function": [ { "name": "NAD(P)HX epimerase activity", "id": "GO:0052856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052856", "evidence": [ { "database": "UniProtKB", "id": "F6W8I0", "url": "https://www.uniprot.org/uniprotkb/F6W8I0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6W8I0-1" }, { "uniprot_canonical_ac": "Q6NZF1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NZF1", "url": "https://www.uniprot.org/uniprotkb/Q6NZF1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 792, "chemical_mass": 86492.0, "gene_names": "Zc3h11a;1110003F06Rik;5730454B08Rik;G630041M05Rik;Kiaa0663;Zc3h11a;Zc3hdc11a;Zc3hh11a;mKIAA0663", "protein_name": "Zinc finger CCCH domain-containing protein 11A", "disease": [], "biological_process": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016973", "evidence": [ { "database": "UniProtKB", "id": "Q6NZF1", "url": "https://www.uniprot.org/uniprotkb/Q6NZF1" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z1D8-1" }, { "uniprot_canonical_ac": "Q9CR50-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR50", "url": "https://www.uniprot.org/uniprotkb/Q9CR50" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 261, "chemical_mass": 30014.0, "gene_names": "Rchy1;ARNIP;Arnip;CHIMP;Chimp;Pirh2;Rchy1;Zfp363;Znf363", "protein_name": "RING finger and CHY zinc finger domain-containing protein 1", "disease": [ { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 } ], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", 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mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43862328", "evidence": [ { "id": "rs262679899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262679899" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1512", "end_pos": "1512", "site_lbl": "Ile1512", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43855595", "evidence": [ { "id": "rs3389072406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072406" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1554", "end_pos": "1554", "site_lbl": "Arg1554", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43852822", "evidence": [ { "id": "rs3400501298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400501298" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Glu1568", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43851166", "evidence": [ { "id": "rs3401213043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401213043" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Thr157", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880717", "evidence": [ { "id": "rs50576477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50576477" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1597", "end_pos": "1597", "site_lbl": "Thr1597", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43851080", "evidence": [ { "id": "rs3547840605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547840605" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1601", "end_pos": "1601", "site_lbl": "Asn1601", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43851069", "evidence": [ { "id": "rs212491449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212491449" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1616", "end_pos": "1616", "site_lbl": "Val1616", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43851024", "evidence": [ { "id": "rs242223238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242223238" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ala166", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880690", "evidence": [ { "id": "rs211840932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211840932" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1688", "end_pos": "1688", "site_lbl": "Asn1688", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43849711", "evidence": [ { "id": "rs3389093419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389093419" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1694", "end_pos": "1694", "site_lbl": "Tyr1694", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43849692", "evidence": [ { "id": "rs3389065264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389065264" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1715", "end_pos": "1715", "site_lbl": "Asp1715", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43843787", "evidence": [ { "id": "rs3389091524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389091524" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1717", "end_pos": "1717", "site_lbl": "Thr1717", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43843782", "evidence": [ { "id": "rs3389072461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072461" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1719", "end_pos": "1719", "site_lbl": "Glu1719", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43843777", "evidence": [ { "id": "rs3389072462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072462" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1726", "end_pos": "1726", "site_lbl": "Gly1726", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43843756", "evidence": [ { "id": "rs3389099944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389099944" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Gln176", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880661", "evidence": [ { "id": "rs1133800154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133800154" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1770", "end_pos": "1770", "site_lbl": "Gln1770", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43842381", "evidence": [ { "id": "rs3389097539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389097539" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Glu177", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880517", "evidence": [ { "id": "rs233579606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233579606" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1791", "end_pos": "1791", "site_lbl": "Ser1791", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43842319", "evidence": [ { "id": "rs3389098762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389098762" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1794", "end_pos": "1794", "site_lbl": "Val1794", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43842310", "evidence": [ { "id": "rs3389098725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389098725" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1805", "end_pos": "1805", "site_lbl": "Glu1805", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43840682", "evidence": [ { "id": "rs3389107325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389107325" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1808", "end_pos": "1808", "site_lbl": "Ser1808", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43840675", "evidence": [ { "id": "rs230252640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230252640" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1821", "end_pos": "1821", "site_lbl": "Cys1821", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43840634", "evidence": [ { "id": "rs3389099761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389099761" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1824", "end_pos": "1824", "site_lbl": "Ala1824", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43840627", "evidence": [ { "id": "rs3389091526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389091526" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880633", "evidence": [ { "id": "rs233352446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233352446" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1920", "end_pos": "1920", "site_lbl": "Gln1920", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43834839", "evidence": [ { "id": "rs3389098770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389098770" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1941", "end_pos": "1941", "site_lbl": "Thr1941", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43834368", "evidence": [ { "id": "rs3389107272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389107272" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "1958", "end_pos": "1958", "site_lbl": "Arg1958", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43834318", "evidence": [ { "id": "rs3401109970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401109970" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880447", "evidence": [ { "id": "rs239792856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239792856" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "2020", "end_pos": "2020", "site_lbl": "Asp2020", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43832694", "evidence": [ { "id": "rs3389065294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389065294" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "2045", "end_pos": "2045", "site_lbl": "His2045", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43827928", "evidence": [ { "id": "rs3389099993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389099993" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "2051", "end_pos": "2051", "site_lbl": "Val2051", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43827912", "evidence": [ { "id": "rs214523864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214523864" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Gly205", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880573", "evidence": [ { "id": "rs252662163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252662163" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Glu224", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880517", "evidence": [ { "id": "rs233579606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233579606" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ala234", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880487", "evidence": [ { "id": "rs257572939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257572939" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880447", "evidence": [ { "id": "rs239792856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239792856" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ala252", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880433", "evidence": [ { "id": "rs218265299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218265299" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ile28", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "44024673", "evidence": [ { "id": "rs3401086709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401086709" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ala309", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880261", "evidence": [ { "id": "rs256929317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256929317" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Asp312", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880253", "evidence": [ { "id": "rs250412049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250412049" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ala324", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880217", "evidence": [ { "id": "rs225604286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225604286" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Val333", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43880190", "evidence": [ { "id": "rs264156453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264156453" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Lys33", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "44024659", "evidence": [ { "id": "rs3401199794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401199794" } ] } ] }, { "uniprot_canonical_ac": "A0A0G2JG52-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Glu358", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "10", "chr_pos": "43874911", "evidence": [ { "id": 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], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PY03", "url": "https://www.uniprot.org/uniprotkb/E9PY03" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "E9PY03", "url": "https://www.uniprot.org/uniprotkb/E9PY03" } ], "pmid": "" } ], "biological_process": [ { "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": "E9PY03", "url": "https://www.uniprot.org/uniprotkb/E9PY03" } ], "pmid": "" }, { "name": "sulfide oxidation, using sulfide:quinone oxidoreductase", "id": "GO:0070221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070221", "evidence": [ { "database": "UniProtKB", "id": "E9PY03", "url": 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"id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "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": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "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": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor 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"A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "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": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "protein phosphatase 1 binding", "id": "GO:0008157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008157", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "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": "A0A1W2P855", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P855" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", 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[], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Asn396", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LHLEENHSDILLGLGTK", "relation": "attached", "comment": "reported site N263 is on non-canonical isoform D3YTQ6-1 which maps to canonical isoform site D3Z3Y1-1:396", "icn3d_view": {}, "start_pos": 396, "start_aa": "Asn", "end_pos": 396, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn396", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108460822", "evidence": [ { "id": "rs46428458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46428458" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ala121", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108465130", "evidence": [ { "id": "rs3388748221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748221" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Met123", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108465137", "evidence": [ { "id": "rs3388777817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388777817" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Val133", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108465165", "evidence": [ { "id": "rs13478449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13478449" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Lys156", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108465234", "evidence": [ { "id": "rs3388767645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767645" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Arg157", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108465237", "evidence": [ { "id": "rs3388782873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388782873" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108467840", "evidence": [ { "id": "rs3411868479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411868479" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Phe296", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108467890", "evidence": [ { "id": "rs46287663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46287663" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Leu324", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108474751", "evidence": [ { "id": "rs3388764721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388764721" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Leu335", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108474785", "evidence": [ { "id": "rs3388758524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758524" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Gln377", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108479857", "evidence": [ { "id": "rs45910775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45910775" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Asn387", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108479886", "evidence": [ { "id": "rs3388771709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771709" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "411", "end_pos": "411", "site_lbl": "His411", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108479959", "evidence": [ { "id": "rs231439112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231439112" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Ala447", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108480556", "evidence": [ { "id": "rs49220016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49220016" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Val456", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108480583", "evidence": [ { "id": "rs3388776071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388776071" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Ala485", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108480671", "evidence": [ { "id": "rs3388761742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388761742" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Val508", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108480740", "evidence": [ { "id": "rs230952487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230952487" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Cys586", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484112", "evidence": [ { "id": "rs3396025384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396025384" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484111", "evidence": [ { "id": "rs3388769734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769734" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Glu604", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484190", "evidence": [ { "id": "rs236989005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236989005" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Glu612", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484190", "evidence": [ { "id": "rs236989005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236989005" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Leu618", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484207", "evidence": [ { "id": "rs3388769725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388769725" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Leu663", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484342", "evidence": [ { "id": "rs3388758523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758523" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Cys665", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484350", "evidence": [ { "id": "rs3388782898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388782898" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Cys666", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484353", "evidence": [ { "id": "rs3388758579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758579" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Arg667", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108484354", "evidence": [ { "id": "rs3388767684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767684" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Ser691", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108486444", "evidence": [ { "id": "rs1135102011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135102011" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Ser699", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108486444", "evidence": [ { "id": "rs1135102011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135102011" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Met711", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108486481", "evidence": [ { "id": "rs3388771777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771777" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Lys755", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108486611", "evidence": [ { "id": "rs3395961719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395961719" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Tyr764", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489687", "evidence": [ { "id": "rs3388748255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388748255" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Leu768", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489698", "evidence": [ { "id": "rs5527291499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527291499" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Thr790", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489764", "evidence": [ { "id": "rs48757189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48757189" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Lys791", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489767", "evidence": [ { "id": "rs3388761761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388761761" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Leu810", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489848", "evidence": [ { "id": "rs3388780427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388780427" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Leu818", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489848", "evidence": [ { "id": "rs3388780427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388780427" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Arg837", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108489906", "evidence": [ { "id": "rs3388771731", "database": "dbSNP", "url": 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] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "904", "end_pos": "904", "site_lbl": "Val904", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108492225", "evidence": [ { "id": "rs3388771700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388771700" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Asn913", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "5", "chr_pos": "108495703", "evidence": [ { "id": "rs3388782900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388782900" } ] } ] }, { "uniprot_canonical_ac": "D3Z3Y1-1", "start_pos": "916", 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"https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1579", "name": "respiratory system disease", "description": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.", "url": "https://disease-ontology.org/term/DOID:1579", "evidence": [ { "id": "1579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1579" } ], "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: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: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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "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: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: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:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles.", "url": "https://disease-ontology.org/term/DOID:2998", "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ], "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: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: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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "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: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: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:3904", "name": "bronchus carcinoma", "description": "A bronchus cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3904", "evidence": [ { "id": "3904", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3904" } ], "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:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4250", "name": "conjunctivochalasis", "description": "", "url": "https://disease-ontology.org/term/DOID:4250", "evidence": [ { "id": "4250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4250" } ], "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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4961", "name": "bone marrow disease", "description": "A hematopoietic system disease that is located_in the bone marrow.", "url": "https://disease-ontology.org/term/DOID:4961", "evidence": [ { "id": "4961", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4961" } ], "weight": 0.0 }, { "disease_id": "DOID:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "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:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9471", "name": "meningitis", "description": "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.", "url": "https://disease-ontology.org/term/DOID:9471", "evidence": [ { "id": "9471", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9471" } ], "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:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "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: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 to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": 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"chemical_mass": 165958.0, "gene_names": "Ercc6;4732403I04;C130058G22Rik;CSB;Csb;Ercc6", "protein_name": "DNA excision repair protein ERCC-6", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060240", "name": "UV-sensitive syndrome", "description": "A skin disease characterized by photosensitivity and liver spots (solar lentigines).", "url": "https://disease-ontology.org/term/DOID:0060240", "evidence": [ { "id": "0060240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060240" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon 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retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.", "url": "https://disease-ontology.org/term/DOID:0080908", "evidence": [ { "id": "0080908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080908" } ], "weight": 0.0 }, { "disease_id": "DOID:0080911", "name": "cerebrooculofacioskeletal syndrome 1", "description": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.", "url": "https://disease-ontology.org/term/DOID:0080911", "evidence": [ { "id": "0080911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080911" } ], "weight": 0.0 }, { "disease_id": "DOID:0110028", "name": "age related macular degeneration 5", "description": "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.", "url": "https://disease-ontology.org/term/DOID:0110028", "evidence": [ { "id": "0110028", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110028" } ], "weight": 0.0 }, { "disease_id": "DOID:0112158", "name": "De Sanctis-Cacchione syndrome", "description": "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.", "url": "https://disease-ontology.org/term/DOID:0112158", "evidence": [ { "id": "0112158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112158" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14184", "name": "polyneuropathy due to drug", "description": "", "url": "https://disease-ontology.org/term/DOID:14184", "evidence": [ { "id": "14184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14184" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2962", "name": "Cockayne syndrome", "description": "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.", "url": "https://disease-ontology.org/term/DOID:2962", "evidence": [ { "id": "2962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2962" } ], "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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "double-strand break repair via classical nonhomologous end joining", "id": "GO:0097680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097680", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "response to superoxide", "id": "GO:0000303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000303", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "regulation of transcription elongation by RNA polymerase 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "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": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "DNA protection", "id": "GO:0042262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042262", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "single strand break repair", "id": "GO:0000012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000012", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "transcription-coupled nucleotide-excision repair", "id": "GO:0006283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006283", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase I", "id": "GO:0006362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006362", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription elongation", "id": "GO:0032784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032784", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "response to UV-B", "id": "GO:0010224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010224", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "pyrimidine dimer repair", "id": "GO:0006290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006290", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation of STAT protein", "id": "GO:0033141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033141", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription, elongation", "id": "GO:0032786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032786", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "negative regulation of double-strand break repair via nonhomologous end joining", "id": "GO:2001033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001033", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", "url": "https://www.uniprot.org/uniprotkb/F8VPZ5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ5", 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"database": "UniProtKB", "id": "A0A1B0GRG8", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GRG8" } ], "pmid": "" }, { "name": "glucocorticoid metabolic process", "id": "GO:0008211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008211", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GRG8", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GRG8" } ], "pmid": "" }, { "name": "phylloquinone catabolic process", "id": "GO:0042376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042376", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GRG8", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GRG8" } ], "pmid": "" }, { "name": "vitamin K metabolic process", "id": "GO:0042373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042373", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GRG8", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GRG8" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", 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"https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, GABAergic", "id": "GO:0032229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032229", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "dendritic spine organization", "id": "GO:0097061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097061", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "dendrite arborization", "id": "GO:0140059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140059", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "positive regulation of gap junction assembly", "id": "GO:1903598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903598", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } 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"https://www.alliancegenome.org/disease/DOID:2228" } ], "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: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:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": 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"perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "endoplasmic reticulum quality control compartment", "id": "GO:0044322", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042824", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cytolytic granule", "id": "GO:0044194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044194", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" } ], "biological_process": [ { "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": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "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": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "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": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of trophoblast cell migration", "id": "GO:1901164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901164", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to glycoside", "id": "GO:1903416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903416", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell chemotaxis", "id": "GO:2000510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000510", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class I protein complex", "id": "GO:0002502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002502", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of intracellular steroid hormone receptor signaling pathway", "id": "GO:0033144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033144", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "regulation of meiotic nuclear division", "id": "GO:0040020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040020", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of retinoic acid receptor signaling pathway", "id": "GO:0048387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048387", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to biphenyl", "id": "GO:1904614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904614", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8VHV1", "url": "https://www.uniprot.org/uniprotkb/Q8VHV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHV1-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Asn125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVAINVTENIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 125, "start_aa": "Asn", "end_pos": 125, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn125", "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" } ] } ] }, { 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 75, "chemical_mass": 8761.0, "gene_names": "Brk1;6720456B07Rik;Brk1", "protein_name": "Protein BRICK1", "disease": [], "biological_process": [ { "name": "regulation of actin polymerization or depolymerization", "id": "GO:0008064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008064", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "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": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "positive regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:2000601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000601", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": "https://www.uniprot.org/uniprotkb/Q91VR8" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q91VR8", "url": 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by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22.", "url": "https://disease-ontology.org/term/DOID:0070163", "evidence": [ { "id": "0070163", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070163" } ], "weight": 0.0 }, { "disease_id": "DOID:14227", "name": "azoospermia", "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen.", "url": "https://disease-ontology.org/term/DOID:14227", "evidence": [ { "id": "14227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14227" } ], "weight": 0.0 }, { "disease_id": "DOID:14228", "name": "oligospermia", "description": "A male fertility issue defined as a low sperm concentration in the ejaculate.", "url": "https://disease-ontology.org/term/DOID:14228", "evidence": [ { "id": "14228", "database": "AGR", "url": 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No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-101, F-153, F-174 and F-188.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Tyr101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation and loss of interaction with PLCG1, PLCG2 and VAV. No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-153, F-174 and F-188.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Tyr153", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation and loss of interaction with PLCG1, PLCG2 and VAV. No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-101, F-174 and F-188.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Tyr174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation and loss of interaction with PLCG1, PLCG2 and VAV. No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-101, F-153 and F-188.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Tyr188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation and loss of interaction with PLCG1, PLCG2 and VAV. No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-101, F-153 and F-174.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Loss of binding to FYB1 and MAP4K1. Reduced tyrosine phosphorylation. No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "12681493", "url": "https://glygen.org/publication/PubMed/12681493" } ] } ] } ], "record_id": "Q9QZE2-1" }, { "uniprot_canonical_ac": "Q8C5W0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1052, "chemical_mass": 117227.0, "gene_names": "Clmn;9330188N17Rik;Clmn;mKIAA1188", "protein_name": "Calmin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": 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"id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { 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"evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomerase", "id": "GO:0032212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032212", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "protein localization to chromosome, telomeric region", "id": "GO:0070198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070198", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "positive regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043517", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "nuclear membrane disassembly", "id": "GO:0051081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051081", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "nucleobase-containing compound metabolic process", "id": "GO:0006139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006139", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "DNA damage 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regulation of telomerase catalytic core complex assembly", "id": "GO:1904884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904884", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "mitotic G2/M transition checkpoint", "id": "GO:0044818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044818", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "regulation of double-strand break repair", "id": "GO:2000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000779", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "DNA strand resection involved in replication fork processing", "id": "GO:0110025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110025", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "positive regulation of biosynthetic process", "id": "GO:0009891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009891", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "extrinsic component of synaptic vesicle membrane", "id": "GO:0098850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098850", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "XY body", "id": "GO:0001741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001741", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "ATR-ATRIP complex", "id": "GO:0070310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070310", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9JKK8", "url": "https://www.uniprot.org/uniprotkb/Q9JKK8" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "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: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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:6827", "name": "pancreatic solid pseudopapillary carcinoma", "description": "A pancreatic carcinoma that is characterized by its papillary architecture.", "url": "https://disease-ontology.org/term/DOID:6827", "evidence": [ { "id": "6827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6827" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to UV-A", "id": "GO:0070141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070141", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "re-entry into mitotic cell cycle", "id": "GO:0000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000320", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "positive regulation of mammary gland epithelial cell proliferation", "id": "GO:0033601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033601", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", 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No effect on methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WVG6", "url": "https://www.uniprot.org/uniprotkb/Q9WVG6" }, { "database": "PubMed", "id": "21138967", "url": "https://glygen.org/publication/PubMed/21138967" } ] } ] } ], "record_id": "Q9WVG6-1" }, { "uniprot_canonical_ac": "P30285-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 33751.0, "gene_names": "Cdk4;Cdk4;Crk3", "protein_name": "Cyclin-dependent kinase 4", "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:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:1064", "name": "cystinosis", "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. 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"database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" }, { "name": "cyclin D1-CDK4 complex", "id": "GO:0097128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097128", "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" }, { "name": "cyclin D3-CDK4 complex", "id": "GO:0097130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097130", "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "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": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P30285", "url": "https://www.uniprot.org/uniprotkb/P30285" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "biological_process": [ { "name": "B cell activation involved in immune response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7MTU6-1" }, { "uniprot_canonical_ac": "L7N463-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 57214.0, "gene_names": "Cyp2d34;Cyp2d34", "protein_name": "Cytochrome P450", "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": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:13839", "name": "extrapyramidal and movement disease", "description": "", "url": "https://disease-ontology.org/term/DOID:13839", "evidence": [ { "id": "13839", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13839" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "molecular_function": [ { "name": "aromatase activity", "id": "GO:0070330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070330", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "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": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "anandamide 8,9 epoxidase activity", "id": "GO:0062187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062187", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "anandamide 11,12 epoxidase activity", "id": "GO:0062188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062188", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "anandamide 14,15 epoxidase activity", "id": "GO:0062189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062189", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "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": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N463-1" }, { "uniprot_canonical_ac": "M0QWB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 188, "chemical_mass": 20371.0, "gene_names": "Ascl5;AmeloD;Ascl5-ps;Ascl5;Gm197;bHLHa47", "protein_name": "Achaete-scute homolog 5", "disease": [], "biological_process": [ { "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": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "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": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "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": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" }, { "name": "ameloblast differentiation", "id": "GO:0036305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036305", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "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": 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[10090]" } ], "length": 150, "chemical_mass": 15545.0, "gene_names": "Cdc42ep5;1700027J19Rik;2010007O02Rik;Borg3;CEP5;Cdc42ep5;Cep5", "protein_name": "Cdc42 effector protein 5", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" } ], "biological_process": [ { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0X0", "url": "https://www.uniprot.org/uniprotkb/Q9Z0X0" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { 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"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: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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood 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"Bmpr2;2610024H22Rik;BMP-2;BMPR-2;BMPR-II;BMPRII;BRK-3;Bmpr2;Gm20272", "protein_name": "Bone morphogenetic protein receptor type-2", "disease": [ { "disease_id": "DOID:0081268", "name": "pulmonary venoocclusive disease 1", "description": "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0081268", "evidence": [ { "id": "0081268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081268" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "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": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": 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leukocyte apoptotic process", "id": "GO:2000107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000107", "evidence": [ { "database": "UniProtKB", "id": "P47774", "url": "https://www.uniprot.org/uniprotkb/P47774" } ], "pmid": "" }, { "name": "positive regulation of immunological synapse formation", "id": "GO:2000522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000522", "evidence": [ { "database": "UniProtKB", "id": "P47774", "url": "https://www.uniprot.org/uniprotkb/P47774" } ], "pmid": "" }, { "name": "positive regulation of T cell costimulation", "id": "GO:2000525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000525", "evidence": [ { "database": "UniProtKB", "id": "P47774", "url": "https://www.uniprot.org/uniprotkb/P47774" } ], "pmid": "" }, { "name": "positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation", "id": "GO:2000526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000526", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "neuropilin signaling pathway", "id": "GO:0038189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038189", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "actin filament branching", "id": "GO:0090135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090135", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "establishment of Golgi localization", "id": "GO:0051683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051683", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": 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"P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "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": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": 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Attenuates intramolecular interaction between the N- and C-terminal domains, hence may relieve autoinhibition; constitutively active in triggering pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" }, { "database": "PubMed", "id": "26375003", "url": "https://glygen.org/publication/PubMed/26375003" }, { "database": "PubMed", "id": "15475261", "url": "https://glygen.org/publication/PubMed/15475261" } ] }, { "sequence_org": "Y", "sequence_mut": "D", "comment": "Spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "In AE mutant; gain-of-function mutation; causes an alopecia phenotype; constitutively active in triggering cell death. Mice also display hypoplastic mammary glands, impairing lactation function.", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" }, { "database": "PubMed", "id": "25825937", "url": "https://glygen.org/publication/PubMed/25825937" }, { "database": "PubMed", "id": "28168650", "url": "https://glygen.org/publication/PubMed/28168650" }, { "database": "PubMed", "id": "22155111", "url": "https://glygen.org/publication/PubMed/22155111" } ] } ] }, { "uniprot_canonical_ac": "Q5Y4Y6-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ala348", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Spontaneous pyroptosis-inducing activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" }, { "database": "PubMed", "id": "27281216", "url": "https://glygen.org/publication/PubMed/27281216" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "In Rim3 mutant; gain-of-function mutation; causes an alopecia phenotype. Attenuates intramolecular interaction between the N- and C-terminal domains, hence may relieve autoinhibition; constitutively active in triggering pyroptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" }, { "database": "PubMed", "id": "26375003", "url": "https://glygen.org/publication/PubMed/26375003" }, { "database": "PubMed", "id": "17572385", "url": "https://glygen.org/publication/PubMed/17572385" } ] } ] }, { "uniprot_canonical_ac": "Q5Y4Y6-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ile359", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Gain-of-function mutation; causes an alopecia phenotype.", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" }, { "database": "PubMed", "id": "22682752", "url": "https://glygen.org/publication/PubMed/22682752" } ] } ] }, { "uniprot_canonical_ac": "Q5Y4Y6-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ala412", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "AEA", "comment": "In Re-den mutant; gain-of-function mutation; causes an alopecia phenotype. 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"disease": [ { "disease_id": "DOID:14227", "name": "azoospermia", "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen.", "url": "https://disease-ontology.org/term/DOID:14227", "evidence": [ { "id": "14227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14227" } ], "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8BH60", "url": 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"membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BH60", "url": "https://www.uniprot.org/uniprotkb/Q8BH60" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BH60", "url": "https://www.uniprot.org/uniprotkb/Q8BH60" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BH60", "url": "https://www.uniprot.org/uniprotkb/Q8BH60" } ], "pmid": "" }, { "name": "trans-Golgi network transport vesicle", "id": "GO:0030140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030140", "evidence": [ { "database": "UniProtKB", "id": "Q8BH60", "url": "https://www.uniprot.org/uniprotkb/Q8BH60" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": 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"UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "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": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "cellular response to endothelin", "id": "GO:1990859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990859", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "maternal process involved in female pregnancy", "id": "GO:0060135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060135", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "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": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "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": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, 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"GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46099-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O54833-1", "kinase_gene_name": "Csnk2a2", "evidence": [ { "database": "iPTMnet", "id": "P46099", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46099" }, { "database": "PubMed", "id": "9722526", "url": "https://glygen.org/publication/PubMed/9722526" } ] }, { "kinase_uniprot_canonical_ac": "Q60737-1", "kinase_gene_name": "Csnk2a1", "evidence": 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change in transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" }, { "database": "PubMed", "id": "9722526", "url": "https://glygen.org/publication/PubMed/9722526" } ] } ] }, { "uniprot_canonical_ac": "P46099-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Lys270", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on DNA binding. 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No loss of superactivation by CBP or EP300.", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" }, { "database": "PubMed", "id": "11259590", "url": "https://glygen.org/publication/PubMed/11259590" }, { "database": "PubMed", "id": "15542849", "url": "https://glygen.org/publication/PubMed/15542849" } ] } ] }, { "uniprot_canonical_ac": "P46099-1", "start_pos": "295", "end_pos": "295", "site_lbl": "His295", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Loss of DNA binding and transactivation activity. No change in interaction with SIN3A nor with HDAC1. No effect on repressive activity.", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" }, { "database": "PubMed", "id": "15542849", "url": "https://glygen.org/publication/PubMed/15542849" } ] } ] }, { "uniprot_canonical_ac": "P46099-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Glu321", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Alters DNA-binding specificity resulting in ectopic transcription of non-erythroid genes.", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" }, { "database": "PubMed", "id": "31818881", "url": "https://glygen.org/publication/PubMed/31818881" }, { "database": "PubMed", "id": "31126231", "url": "https://glygen.org/publication/PubMed/31126231" } ] } ] }, { "uniprot_canonical_ac": "P46099-1", "start_pos": "325", "end_pos": "325", "site_lbl": "His325", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Loss of DNA binding and transactivation activity. 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No effect on repressive activity.", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" }, { "database": "PubMed", "id": "15542849", "url": "https://glygen.org/publication/PubMed/15542849" } ] } ] }, { "uniprot_canonical_ac": "P46099-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Lys56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes sumoylation. No change in nuclear localization but no colocalization with SUMO1. Reduces inhibition of megakaryocytic differentiation. No decrease in bone marrow precursors to form megakaryocytic colonies. No effect on erythroid differentiation.", "evidence": [ { "database": "UniProtKB", "id": "P46099", "url": "https://www.uniprot.org/uniprotkb/P46099" }, { "database": "PubMed", "id": "17938210", "url": "https://glygen.org/publication/PubMed/17938210" } ] } ] } ], "record_id": "P46099-1" }, { "uniprot_canonical_ac": "Q99N43-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N43", "url": "https://www.uniprot.org/uniprotkb/Q99N43" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 473, "chemical_mass": 51673.0, "gene_names": "Kremen1;Kremen1;Kremen;Krm1", "protein_name": "Kremen protein 1", "disease": [ { "disease_id": "DOID:0111650", "name": "ectodermal dysplasia 13", "description": "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 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"sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KNC->NNC); glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60180340", "evidence": [ { "id": "rs3388551764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551764" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1003", "end_pos": "1003", "site_lbl": "Leu1003", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158276", "evidence": [ { "id": "rs3391647438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391647438" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1010", "end_pos": "1010", "site_lbl": "Ser1010", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158254", "evidence": [ { "id": "rs3391517504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391517504" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1011", "end_pos": "1011", "site_lbl": "Leu1011", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158253", "evidence": [ { "id": "rs3391393119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391393119" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1013", "end_pos": "1013", "site_lbl": "Ile1013", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158246", "evidence": [ { "id": "rs3391632218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632218" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1014", "end_pos": "1014", "site_lbl": "Gly1014", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158243", "evidence": [ { "id": "rs3391669813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391669813" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1020", "end_pos": "1020", "site_lbl": "Tyr1020", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158225_60158226insT", "evidence": [ { "id": "rs3391530880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391530880" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1030", "end_pos": "1030", "site_lbl": "Arg1030", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158194", "evidence": [ { "id": "rs3388556445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556445" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Asp1055", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60154282", "evidence": [ { "id": "rs3388556409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556409" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Asn1066", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60154250", "evidence": [ { "id": "rs5525496524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525496524" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1099", "end_pos": "1099", "site_lbl": "Gly1099", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152257", "evidence": [ { "id": "rs236272029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236272029" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152257_60152258insACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388556454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556454" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1100", "end_pos": "1100", "site_lbl": "Gln1100", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152254", "evidence": [ { "id": "rs3388557468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557468" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1102", "end_pos": "1102", "site_lbl": "Trp1102", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152248", "evidence": [ { "id": "rs3388554981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554981" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1103", "end_pos": "1103", "site_lbl": "Glu1103", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152245", "evidence": [ { "id": "rs222513502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222513502" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1108", "end_pos": "1108", "site_lbl": "Thr1108", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152230", "evidence": [ { "id": "rs3388546740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546740" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1109", "end_pos": "1109", "site_lbl": "Val1109", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152227", "evidence": [ { "id": "rs3388550396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550396" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1134", "end_pos": "1134", "site_lbl": "Lys1134", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152151", "evidence": [ { "id": "rs3388556925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556925" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1143", "end_pos": "1143", "site_lbl": "Thr1143", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152124", "evidence": [ { "id": "rs3388550380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550380" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1147", "end_pos": "1147", "site_lbl": "Gln1147", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152111", "evidence": [ { "id": "rs3388556864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556864" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Ala1155", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152088", "evidence": [ { "id": "rs3388551810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551810" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1178", "end_pos": "1178", "site_lbl": "Ser1178", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148795", "evidence": [ { "id": "rs1132063842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063842" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1183", "end_pos": "1183", "site_lbl": "Leu1183", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148781", "evidence": [ { "id": "rs1135179932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135179932" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1191", "end_pos": "1191", "site_lbl": "Ser1191", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148756", "evidence": [ { "id": "rs259060813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259060813" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Ile1200", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148728", "evidence": [ { "id": "rs3388556426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556426" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1202", "end_pos": "1202", "site_lbl": "Asp1202", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148724", "evidence": [ { "id": "rs3388554952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554952" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Asp1204", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148718", "evidence": [ { "id": "rs3388556168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556168" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1213", "end_pos": "1213", "site_lbl": "Asp1213", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148689", "evidence": [ { "id": "rs251463109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251463109" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Asn1215", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148684", "evidence": [ { "id": "rs3388554206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554206" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Tyr1223", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148660", "evidence": [ { "id": "rs3388556129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556129" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148661", "evidence": [ { "id": "rs3388555342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555342" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1237", "end_pos": "1237", "site_lbl": "Thr1237", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146567", "evidence": [ { "id": "rs3388552613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388552613" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ala124", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206297", "evidence": [ { "id": "rs228756182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228756182" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1263", "end_pos": "1263", "site_lbl": "Asn1263", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146490", "evidence": [ { "id": "rs3388553574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553574" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146488", "evidence": [ { "id": "rs28039982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28039982" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1279", "end_pos": "1279", "site_lbl": "Glu1279", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146442", "evidence": [ { "id": "rs28039984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28039984" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146441", "evidence": [ { "id": "rs3388553625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553625" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1283", "end_pos": "1283", "site_lbl": "Ser1283", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60144615", "evidence": [ { "id": "rs28039996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28039996" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1329", "end_pos": "1329", "site_lbl": "Lys1329", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60142123", "evidence": [ { "id": "rs3388551739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551739" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206270", "evidence": [ { "id": "rs265822037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265822037" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Phe1467", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60136826", "evidence": [ { "id": "rs3391669742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391669742" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Glu147", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206227", "evidence": [ { "id": "rs3388556939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556939" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1482", "end_pos": "1482", "site_lbl": "Ser1482", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60136781", "evidence": [ { "id": "rs3388553601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553601" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1501", "end_pos": "1501", "site_lbl": "Glu1501", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60136724", "evidence": [ { "id": "rs3388550719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550719" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1525", "end_pos": "1525", "site_lbl": "Val1525", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60134050", "evidence": [ { "id": "rs238928734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238928734" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1526", "end_pos": "1526", "site_lbl": "Lys1526", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60134048", "evidence": [ { "id": "rs213603904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213603904" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1559", "end_pos": "1559", "site_lbl": "Glu1559", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60133948", "evidence": [ { "id": "rs3391632219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632219" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1575", "end_pos": "1575", "site_lbl": "Thr1575", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60131400", "evidence": [ { "id": "rs3388555314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555314" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1591", "end_pos": "1591", "site_lbl": "Glu1591", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60131353", "evidence": [ { "id": "rs3388551732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551732" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1605", "end_pos": "1605", "site_lbl": "Gln1605", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60131311", "evidence": [ { "id": "rs864283693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864283693" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1623", "end_pos": "1623", "site_lbl": "Val1623", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129516", "evidence": [ { "id": "rs3391393101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391393101" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1633", "end_pos": "1633", "site_lbl": "Asp1633", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129485", "evidence": [ { "id": "rs3388550739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550739" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1661", "end_pos": "1661", "site_lbl": "Lys1661", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129402", "evidence": [ { "id": "rs3388554982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554982" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1662", "end_pos": "1662", "site_lbl": "Ile1662", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129400", "evidence": [ { "id": "rs3388556462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556462" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Leu1691", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60124205", "evidence": [ { "id": "rs262900826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262900826" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1699", "end_pos": "1699", "site_lbl": "Trp1699", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60124179", "evidence": [ { "id": "rs3388556402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556402" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1709", "end_pos": "1709", "site_lbl": "His1709", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60124150", "evidence": [ { "id": "rs28040050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28040050" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Thr196", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60199153", "evidence": [ { "id": "rs3388553722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553722" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Tyr230", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195468", "evidence": [ { "id": "rs864302383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864302383" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ile237", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195448", "evidence": [ { "id": "rs233803533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233803533" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195381", "evidence": [ { "id": "rs246386778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246386778" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Val25", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60213503", "evidence": [ { "id": "rs3388550427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550427" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Leu263", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195370", "evidence": [ { "id": "rs3388557453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557453" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Leu275", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188902", "evidence": [ { "id": "rs28024497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024497" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Trp289", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188860", "evidence": [ { "id": "rs864288464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864288464" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Arg295", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188841", "evidence": [ { "id": "rs28024498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024498" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Pro304", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188814", "evidence": [ { "id": "rs28024499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024499" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Thr306", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187758", "evidence": [ { "id": "rs28024507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024507" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187758", "evidence": [ { "id": "rs28024507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024507" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Val311", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187744", "evidence": [ { "id": "rs246385389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246385389" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ala318", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187722", "evidence": [ { "id": "rs3388555391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555391" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Arg319", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187719", "evidence": [ { "id": "rs214210971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214210971" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Gly325", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187702", "evidence": [ { "id": "rs249857424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249857424" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "386", "end_pos": "386", "site_lbl": "His386", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60185802", "evidence": [ { "id": "rs28024525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024525" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Phe392", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60185783", "evidence": [ { "id": "rs257982002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257982002" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "400", "end_pos": "400", "site_lbl": "His400", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60185760", "evidence": [ { "id": "rs3388551781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551781" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184886", "evidence": [ { "id": "rs28024535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024535" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Asn427", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184874", "evidence": [ { "id": "rs3388546786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546786" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Val454", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184793", "evidence": [ { "id": "rs215218650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215218650" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Phe456", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184786", "evidence": [ { "id": "rs255713594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255713594" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Leu466", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184756", "evidence": [ { "id": "rs3388557448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557448" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Glu505", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60183268", "evidence": [ { "id": "rs28024552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024552" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Leu50", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206520", "evidence": [ { "id": "rs3388554223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554223" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Arg553", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182516", "evidence": [ { "id": "rs245389141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245389141" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Arg561", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182493", "evidence": [ { "id": "rs864284428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864284428" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "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, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206501", "evidence": [ { "id": "rs256150256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256150256" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Ala574", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182454", "evidence": [ { "id": "rs234753589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234753589" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Gln575", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182450", "evidence": [ { "id": "rs216241163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216241163" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Val666", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178818", "evidence": [ { "id": "rs3540345307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540345307" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Gly682", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178770", "evidence": [ { "id": "rs3540366659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540366659" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Arg690", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178745", "evidence": [ { "id": "rs253655024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253655024" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Asp696", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178727", "evidence": [ { "id": "rs3388553727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553727" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Pro733", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60170498", "evidence": [ { "id": "rs3391600615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391600615" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Leu75", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206445", "evidence": [ { "id": "rs3388550378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550378" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Tyr776", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60164849", "evidence": [ { "id": "rs3388550459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550459" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Lys778", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60164844", "evidence": [ { "id": "rs864271712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864271712" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Cys782", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60164832", "evidence": [ { "id": "rs3388553571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553571" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Gln791", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60164806", "evidence": [ { "id": "rs3388553611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553611" } ] }, { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60164804", "evidence": [ { "id": "rs240196419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240196419" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "874", "end_pos": "874", "site_lbl": "Trp874", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60161462", "evidence": [ { "id": "rs3388556885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556885" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "882", "end_pos": "882", "site_lbl": "Ile882", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60161439", "evidence": [ { "id": "rs5525503660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525503660" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "907", "end_pos": "907", "site_lbl": "His907", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60161097", "evidence": [ { "id": "rs3388555379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555379" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206387", "evidence": [ { "id": "rs3391575738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391575738" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "954", "end_pos": "954", "site_lbl": "Glu954", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60160344", "evidence": [ { "id": "rs3507676803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507676803" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ser969", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158820", "evidence": [ { "id": "rs3388556896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556896" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "987", "end_pos": "987", "site_lbl": "Thr987", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60158767", "evidence": [ { "id": "rs3388549027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388549027" } ] } ] } ], "record_id": "Q60767-1" }, { "uniprot_canonical_ac": "Q9JHQ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHQ5", "url": "https://www.uniprot.org/uniprotkb/Q9JHQ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 299, "chemical_mass": 34773.0, "gene_names": "Lztfl1;5530402H04Rik;6130400H19Rik;Lztfl1", "protein_name": "Leucine zipper transcription factor-like protein 1", "disease": [ { "disease_id": "DOID:0110139", "name": "Bardet-Biedl syndrome 17", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0110139", "evidence": [ { "id": "0110139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110139" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JHQ5", "url": "https://www.uniprot.org/uniprotkb/Q9JHQ5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.", "url": "https://disease-ontology.org/term/DOID:0070270", "evidence": [ { "id": "0070270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070270" } ], "weight": 0.0 }, { "disease_id": "DOID:0070271", "name": "Lynch syndrome 1", "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.", "url": "https://disease-ontology.org/term/DOID:0070271", "evidence": [ { "id": "0070271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070271" } ], "weight": 0.0 }, { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "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: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:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "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: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:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "oxidized purine DNA binding", "id": "GO:0032357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032357", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "single guanine insertion binding", "id": "GO:0032142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032142", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "single thymine insertion binding", "id": "GO:0032143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032143", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "dinucleotide repeat insertion binding", "id": "GO:0032181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032181", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "four-way junction DNA binding", "id": "GO:0000400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000400", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on DNA", "id": "GO:0008094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008094", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "centromeric DNA binding", "id": "GO:0019237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019237", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "mismatched DNA binding", "id": "GO:0030983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030983", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "MutLalpha complex binding", "id": "GO:0032405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032405", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "guanine/thymine mispair binding", "id": "GO:0032137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032137", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic recombination", "id": "GO:0006312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006312", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "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": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "oxidative phosphorylation", "id": "GO:0006119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006119", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "mitotic intra-S DNA damage checkpoint signaling", "id": "GO:0031573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031573", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgG isotypes", "id": "GO:0048304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048304", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P43247", "url": "https://www.uniprot.org/uniprotkb/P43247" } ], "pmid": "" }, { "name": "maintenance of DNA repeat 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "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": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of determination of dorsal identity", "id": "GO:2000017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000017", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" 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"https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell apoptotic process", "id": "GO:0010666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "stress-activated MAPK cascade", "id": "GO:0051403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051403", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "regulation of centrosome cycle", "id": "GO:0046605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046605", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "determination of dorsal identity", "id": "GO:0048263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048263", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900227", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "type B pancreatic cell apoptotic process", "id": "GO:0097050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097050", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of cyclase activity", "id": "GO:0031281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031281", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "protein poly-ADP-ribosylation", "id": "GO:0070212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070212", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of neuron migration", "id": "GO:2001224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001224", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of glial cell apoptotic process", "id": "GO:0034352", "url": 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Abolishes stimulation of splice factor synthesis. Abolishes binding to mRNAs in the nucleus and impairs nuclear pore complex reprogramming and mRNA export. Does not affect interaction with HHEX.", "evidence": [ { "database": "UniProtKB", "id": "P63073", "url": "https://www.uniprot.org/uniprotkb/P63073" }, { "database": "PubMed", "id": "12554669", "url": "https://glygen.org/publication/PubMed/12554669" }, { "database": "PubMed", "id": "36843541", "url": "https://glygen.org/publication/PubMed/36843541" }, { "database": "PubMed", "id": "22902403", "url": "https://glygen.org/publication/PubMed/22902403" }, { "database": "PubMed", "id": "8577715", "url": "https://glygen.org/publication/PubMed/8577715" } ] } ] }, { "uniprot_canonical_ac": "P63073-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Trp56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes mRNA nuclear export. Impairs nuclear pore complex reprogramming. No effect on interaction with PML or viral Z protein but reduces binding to the mRNA cap. Capable of AKT1 activation. Does not impair interaction with HHEX or HOXA9.", "evidence": [ { "database": "UniProtKB", "id": "P63073", "url": "https://www.uniprot.org/uniprotkb/P63073" }, { "database": "PubMed", "id": "11575918", "url": "https://glygen.org/publication/PubMed/11575918" }, { "database": "PubMed", "id": "11500381", "url": "https://glygen.org/publication/PubMed/11500381" }, { "database": "PubMed", "id": "15657436", "url": "https://glygen.org/publication/PubMed/15657436" }, { "database": "PubMed", "id": "12554669", "url": "https://glygen.org/publication/PubMed/12554669" }, { "database": "PubMed", "id": "18391071", "url": "https://glygen.org/publication/PubMed/18391071" }, { "database": "PubMed", "id": "22902403", "url": "https://glygen.org/publication/PubMed/22902403" }, { "database": "PubMed", "id": "17074885", "url": "https://glygen.org/publication/PubMed/17074885" } ] } ] }, { "uniprot_canonical_ac": "P63073-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Val69", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Reduces interaction with LRPPRC. Abolishes interaction with LRPPRC and abolishes CCND1 mRNA export; when associated with A-73.", "evidence": [ { "database": "UniProtKB", "id": "P63073", "url": "https://www.uniprot.org/uniprotkb/P63073" }, { "database": "PubMed", "id": "19262567", "url": "https://glygen.org/publication/PubMed/19262567" } ] } ] }, { "uniprot_canonical_ac": "P63073-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Trp73", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Binding to CYFIP1 reduced by 70%. Does not affect mRNA nuclear export or nuclear pore complex reprogramming. Does not affect affinity for mRNA cap. Reduces interaction with LRPPRC. Reduces affinity for PML and viral Z protein. Abolishes AKT1 activation. Abolishes interaction with HHEX. Inhibits interaction with HOXA9. 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{ "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "ruffle organization", "id": "GO:0031529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031529", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "axon guidance", 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translation at postsynapse, modulating synaptic transmission", "id": "GO:0099578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099578", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic actin cytoskeleton", "id": "GO:1905274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905274", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" } ], "cellular_component": [ { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "central region of growth cone", "id": "GO:0090724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090724", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q7TMB8", "url": "https://www.uniprot.org/uniprotkb/Q7TMB8" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": 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"extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R368", "url": "https://www.uniprot.org/uniprotkb/Q8R368" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R368", "url": "https://www.uniprot.org/uniprotkb/Q8R368" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R368", "url": "https://www.uniprot.org/uniprotkb/Q8R368" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R368", "url": "https://www.uniprot.org/uniprotkb/Q8R368" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", 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"reference_species": "Mus musculus [10090]" } ], "length": 893, "chemical_mass": 96905.0, "gene_names": "Dag1;D9Wsu13e;DG;Dag1;Dp427;Dp71", "protein_name": "Dystroglycan 1", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "disease_id": "DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN 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alpha-sarcoglycan gene (SGCA) on chromosome 17q.", "url": "https://disease-ontology.org/term/DOID:0110278", "evidence": [ { "id": "0110278", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110278" } ], "weight": 0.0 }, { "disease_id": "DOID:0110293", "name": "autosomal recessive limb-girdle muscular dystrophy type 2P", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0110293", "evidence": [ { "id": "0110293", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110293" } ], "weight": 0.0 }, { "disease_id": "DOID:0111232", "name": "congenital muscular dystrophy-dystroglycanopathy type A9", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.", "url": "https://disease-ontology.org/term/DOID:0111232", "evidence": [ { "id": "0111232", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111232" } ], "weight": 0.0 }, { "disease_id": "DOID:0112374", "name": "muscular dystrophy-dystroglycanopathy", "description": "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.", "url": "https://disease-ontology.org/term/DOID:0112374", "evidence": [ { "id": "0112374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112374" } ], "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:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID: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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dystrophin-associated glycoprotein complex", "id": "GO:0016010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016010", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "contractile ring", "id": "GO:0070938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070938", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "node of Ranvier", "id": "GO:0033268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033268", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "inhibitory synapse", "id": "GO:0060077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060077", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "dystroglycan complex", "id": "GO:0016011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016011", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "retrograde trans-synaptic signaling by trans-synaptic protein complex", "id": "GO:0098942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098942", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle acetylcholine-gated channel clustering", "id": "GO:1904395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904395", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "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": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, cholinergic", "id": "GO:0032223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032223", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": 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