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filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161268", "evidence": [ { "id": "rs3544839258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839258" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Asn125", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161743", "evidence": [ { "id": "rs215143160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215143160" } ] }, { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161741", "evidence": [ { "id": "rs586379781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586379781" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Tyr130", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161757", "evidence": [ { "id": "rs3544921172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544921172" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ala132", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161763", "evidence": [ { "id": "rs215224212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215224212" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161763", "evidence": [ { "id": "rs215224212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215224212" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161765", "evidence": [ { "id": "rs230659944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230659944" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Phe134", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161769", "evidence": [ { "id": "rs3544920442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920442" } ] }, { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161768", "evidence": [ { "id": "rs236636866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236636866" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161775", "evidence": [ { "id": "rs580711687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs580711687" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ser145", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161802", "evidence": [ { "id": "rs3544844620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844620" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Glu146", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161805", "evidence": [ { "id": "rs3544817985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817985" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "147", "end_pos": "147", "site_lbl": "His147", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161808", "evidence": [ { "id": "rs583910931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583910931" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161808", "evidence": [ { "id": "rs583910931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583910931" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161807", "evidence": [ { "id": "rs1133254046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133254046" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Pro148", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161810", "evidence": [ { "id": "rs3544839170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839170" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161811", "evidence": [ { "id": "rs3388865926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865926" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Lys150", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161817", "evidence": [ { "id": "rs249152406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249152406" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Trp151", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161821", "evidence": [ { "id": "rs3545027444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545027444" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Gly15", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129157686", "evidence": [ { "id": "rs218881235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218881235" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161847", "evidence": [ { "id": "rs3544839306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839306" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Phe169", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162856", "evidence": [ { "id": "rs36411119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36411119" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162868", "evidence": [ { "id": "rs3544811217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544811217" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Gly176", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162877", "evidence": [ { "id": "rs251365359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251365359" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162876", "evidence": [ { "id": "rs36862977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36862977" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162888", "evidence": [ { "id": "rs3544839124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839124" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Arg181", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162893", "evidence": [ { "id": "rs3545142371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545142371" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Tyr183", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162898", "evidence": [ { "id": "rs3544844679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844679" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162897", "evidence": [ { "id": "rs3544920974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920974" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162900", "evidence": [ { "id": "rs3544920586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920586" } ] }, { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162901", "evidence": [ { "id": "rs36660968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36660968" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Leu185", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162904", "evidence": [ { "id": "rs3544920555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920555" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Met187", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162910", "evidence": [ { "id": "rs3544920503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920503" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Leu198", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162942", "evidence": [ { "id": "rs3545027547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545027547" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Gln201", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162952", "evidence": [ { "id": "rs38387049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38387049" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Thr202", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162955", "evidence": [ { "id": "rs3388865282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865282" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Pro203", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129162957", "evidence": [ { "id": "rs247948674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247948674" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Gly23", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160055", "evidence": [ { "id": "rs249101344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249101344" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ile25", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160061", "evidence": [ { "id": "rs3545142464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545142464" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Gly28", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160069", "evidence": [ { "id": "rs216880382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216880382" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Cys2", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129157647", "evidence": [ { "id": "rs213521079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213521079" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Arg30", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160077", "evidence": [ { "id": "rs228315002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228315002" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160075", "evidence": [ { "id": "rs3545142512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545142512" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "31", "end_pos": "31", "site_lbl": "His31", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160079", "evidence": [ { "id": "rs584710657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584710657" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160078", "evidence": [ { "id": "rs3544844538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844538" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Gly32", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160082", "evidence": [ { "id": "rs3544815671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815671" } ] }, { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160081", "evidence": [ { "id": "rs252656390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252656390" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160082", "evidence": [ { "id": "rs3544815671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815671" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Thr33", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160085", "evidence": [ { "id": "rs3544920475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920475" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ile34", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160089", "evidence": [ { "id": "rs3545027536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545027536" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Ser35", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160091", "evidence": [ { "id": "rs3544844669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844669" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Pro36", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160093", "evidence": [ { "id": "rs214780592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214780592" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160093", "evidence": [ { "id": "rs214780592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214780592" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Cys39", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160102", "evidence": [ { "id": "rs580927558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs580927558" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160103", "evidence": [ { "id": "rs3544945203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544945203" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Val3", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129157651", "evidence": [ { "id": "rs236962003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236962003" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Leu42", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160111", "evidence": [ { "id": "rs584110074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584110074" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160111", "evidence": [ { "id": "rs584110074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584110074" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Cys44", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160118", "evidence": [ { "id": "rs3544811164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544811164" } ] }, { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160117", "evidence": [ { "id": "rs3544810424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810424" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160118", "evidence": [ { "id": "rs3544811164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544811164" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Tyr45", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160121", "evidence": [ { "id": "rs235895749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235895749" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Tyr46", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160124", "evidence": [ { "id": "rs3544900098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900098" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Met50", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160137", "evidence": [ { "id": "rs3544838839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544838839" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160136", "evidence": [ { "id": "rs3545142317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545142317" } ] }, { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160135", "evidence": [ { "id": "rs3544900215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900215" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Leu52", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160141", "evidence": [ { "id": "rs3544920469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920469" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Thr53", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160145", "evidence": [ { "id": "rs578355604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578355604" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ile57", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160156", "evidence": [ { "id": "rs261269074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261269074" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ala58", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160159", "evidence": [ { "id": "rs582979358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582979358" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160166", "evidence": [ { "id": "rs255739139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255739139" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160166", "evidence": [ { "id": "rs255739139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255739139" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ala62", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160172", "evidence": [ { "id": "rs211882927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211882927" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160178", "evidence": [ { "id": "rs3544821559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544821559" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ala65", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129160180", "evidence": [ { "id": "rs582381125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582381125" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161098", "evidence": [ { "id": "rs3544896925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896925" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161101", "evidence": [ { "id": "rs586966588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586966588" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161101", "evidence": [ { "id": "rs586966588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586966588" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161101", "evidence": [ { "id": "rs586966588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586966588" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Thr68", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161107", "evidence": [ { "id": "rs3544815778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815778" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Pro72", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161119", "evidence": [ { "id": "rs3544920853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920853" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161118", "evidence": [ { "id": "rs581020644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581020644" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161118", "evidence": [ { "id": "rs581020644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581020644" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Val73", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161122", "evidence": [ { "id": "rs584406648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584406648" } ] }, { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161122", "evidence": [ { "id": "rs584406648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584406648" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161121", "evidence": [ { "id": "rs3544810908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810908" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Asn74", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161126", "evidence": [ { "id": "rs3545027550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545027550" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Lys75", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161129", "evidence": [ { "id": "rs586584607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586584607" } ] }, { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161128", "evidence": [ { "id": "rs3544896254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896254" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ala78", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161137", "evidence": [ { "id": "rs1135280783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135280783" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ala79", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161139", "evidence": [ { "id": "rs581601737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581601737" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Gln82", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161148", "evidence": [ { "id": "rs585116173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585116173" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161149", "evidence": [ { "id": "rs3544844690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844690" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161153", "evidence": [ { "id": "rs1135143515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135143515" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ile85", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161157", "evidence": [ { "id": "rs3544896269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896269" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Gly86", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161161", "evidence": [ { "id": "rs3545142501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545142501" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Val87", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161163", "evidence": [ { "id": "rs579110211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579110211" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Glu88", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161167", "evidence": [ { "id": "rs221331319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221331319" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161171", "evidence": [ { "id": "rs3544811207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544811207" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Lys90", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161173", "evidence": [ { "id": "rs3388870821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388870821" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Glu96", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161191", "evidence": [ { "id": "rs3544945344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544945344" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161190", "evidence": [ { "id": "rs3544921092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544921092" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Tyr97", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161193", "evidence": [ { "id": "rs3544920536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920536" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Pro98", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161196", "evidence": [ { "id": "rs582514852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582514852" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161196", "evidence": [ { "id": "rs582514852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582514852" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161196", "evidence": [ { "id": "rs582514852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582514852" } ] } ] }, { "uniprot_canonical_ac": "Q91V08-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161200", "evidence": [ { "id": "rs3544920565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920565" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129161199", "evidence": [ { "id": "rs3544851541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544851541" }, { "id": "rs3544844568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844568" } ] } ] } ], "record_id": "Q91V08-1" }, { "uniprot_canonical_ac": "Q91XQ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91XQ5", "url": "https://www.uniprot.org/uniprotkb/Q91XQ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 561, "chemical_mass": 64986.0, "gene_names": "Chst15;4631426J05Rik;BRAG;Brag;Chst15;GalNAc4S-6ST;GalNAcS-6ST;Galnac4s6st;Kiaa0598;MAd5;mKIAA0598", "protein_name": "Carbohydrate sulfotransferase 15", "disease": [], "biological_process": [ { "name": "hexose biosynthetic process", "id": "GO:0019319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019319", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ5", "url": "https://www.uniprot.org/uniprotkb/Q91XQ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "3'-phosphoadenosine 5'-phosphosulfate binding", "id": "GO:0050656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050656", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ5", "url": "https://www.uniprot.org/uniprotkb/Q91XQ5" } ], "pmid": "" }, { "name": "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity", "id": "GO:0050659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050659", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ5", "url": "https://www.uniprot.org/uniprotkb/Q91XQ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ5", "url": "https://www.uniprot.org/uniprotkb/Q91XQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asn142", "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": "EHHYQPSVNNISYVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "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": "Q91XQ5-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Asn364", "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": 364, "start_aa": "Asn", "end_pos": 364, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn364", "evidence": [ { "id": "Q91XQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91XQ5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Asn441", "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": "ACVYNNTLNNAMPVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 441, "start_aa": "Asn", "end_pos": 441, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn441", "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": "Q91XQ5-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Pro128", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NPS->NLS); glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131871897", "evidence": [ { "id": "rs582161080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582161080" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Asn127", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate 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"evidence": [ { "id": "rs13473824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13473824" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Glu14", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872238", "evidence": [ { "id": "rs3388950893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950893" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Asp15", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872236", "evidence": [ { "id": "rs3388957349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957349" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Arg162", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131871796", "evidence": [ { "id": "rs3398144735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398144735" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ile163", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131871793", "evidence": [ { "id": "rs3398564890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398564890" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Phe165", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131871787", "evidence": [ { "id": "rs3398158345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398158345" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131871781", "evidence": [ { "id": "rs3398581474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398581474" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Arg168", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131871778", "evidence": [ { "id": "rs3398672611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398672611" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Thr16", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872234", "evidence": [ { "id": "rs3388958360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958360" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Lys18", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872227", "evidence": [ { "id": "rs3388910623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388910623" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131870906", "evidence": [ { "id": "rs3388952539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952539" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Leu214", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131870894", "evidence": [ { "id": "rs3388952784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952784" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ser227", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131870854", "evidence": [ { "id": "rs3388943208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388943208" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Thr266", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131870737", "evidence": [ { "id": "rs3388950865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950865" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Leu273", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131870717", "evidence": [ { "id": "rs3388910597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388910597" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Glu278", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398317639" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Thr510", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131840160", "evidence": [ { "id": "rs3388950881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950881" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Arg537", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131840080", "evidence": [ { "id": "rs3398158332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398158332" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ala56", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872114", "evidence": [ { "id": "rs3398564844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398564844" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Glu66", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872084", "evidence": [ { "id": "rs3388910633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388910633" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Gly69", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872074", "evidence": [ { "id": "rs3388958974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958974" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Gly70", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872071", "evidence": [ { "id": "rs3388957327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957327" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "72", "end_pos": 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glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872021", "evidence": [ { "id": "rs3388933204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388933204" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ile88", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "131872018", "evidence": [ { "id": "rs3388952791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952791" } ] } ] }, { "uniprot_canonical_ac": "Q91XQ5-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Val9", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": 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"evidence": [ { "database": "UniProtKB", "id": "Q9CQG1", "url": "https://www.uniprot.org/uniprotkb/Q9CQG1" } ], "pmid": "" } ], "molecular_function": [ { "name": "glutathione specific gamma-glutamylcyclotransferase activity", "id": "GO:0061928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061928", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG1", "url": "https://www.uniprot.org/uniprotkb/Q9CQG1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQG1-1" }, { "uniprot_canonical_ac": "Q9D424-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 453, "chemical_mass": 48333.0, "gene_names": "Cabyr;1700016C01Rik;4933421A18Rik;CBP86;Cabyr;Cbp86;FSP-2", "protein_name": "Calcium-binding tyrosine phosphorylation-regulated protein", "disease": [ { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" }, { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9D424", "url": "https://www.uniprot.org/uniprotkb/Q9D424" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D424-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Asn51", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EGNSSLDIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "Q9D424-1" }, { "uniprot_canonical_ac": "Q9D7S9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 219, "chemical_mass": 24576.0, "gene_names": "Chmp5;2210412K09Rik;Chmp5;Snf7dc2", "protein_name": "Charged multivesicular body protein 5", "disease": [], "cellular_component": [ { "name": "ESCRT III complex", "id": "GO:0000815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000815", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "kinetochore microtubule", "id": "GO:0005828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005828", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "amphisome membrane", "id": "GO:1904930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904930", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" } ], "biological_process": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "nuclear membrane reassembly", "id": "GO:0031468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031468", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "multivesicular body assembly", "id": "GO:0036258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036258", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "viral budding via host ESCRT complex", "id": "GO:0039702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039702", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "multivesicular body-lysosome fusion", "id": "GO:0061763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061763", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "multivesicular body sorting pathway", "id": "GO:0071985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071985", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "regulation of receptor recycling", "id": "GO:0001919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001919", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "cellular response to muramyl dipeptide", "id": "GO:0071225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071225", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "late endosome to lysosome transport", "id": "GO:1902774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902774", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "viral budding", "id": "GO:0046755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046755", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "late endosome to vacuole transport via multivesicular body sorting pathway", "id": "GO:0032511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032511", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "viral budding from plasma membrane", "id": "GO:0046761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046761", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S9", "url": "https://www.uniprot.org/uniprotkb/Q9D7S9" } ], "pmid": "" }, { "name": "midbody abscission", "id": "GO:0061952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061952", "evidence": [ { "database": 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"taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 732, "chemical_mass": 83057.0, "gene_names": "Xrcc5;CTC85;CTCBF;G22p2;Ku80;Ku86;Kup80;Xrcc5", "protein_name": "DNA repair protein Ku80", "disease": [ { "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: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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "3'-5' DNA helicase activity", "id": "GO:0043138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043138", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "5'-deoxyribose-5-phosphate lyase activity", "id": "GO:0051575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051575", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": 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"chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "Ku70:Ku80 complex", "id": "GO:0043564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043564", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of t-circle formation", "id": "GO:1904430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904430", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "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": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "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": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "small-subunit processome assembly", "id": "GO:0034462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034462", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell proliferation", "id": "GO:0048660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048660", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { "name": "recombinational repair", "id": "GO:0000725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000725", "evidence": [ { "database": "UniProtKB", "id": "P27641", "url": "https://www.uniprot.org/uniprotkb/P27641" } ], "pmid": "" }, { 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} ], "pmid": "" }, { "name": "multivesicular body assembly", "id": "GO:0036258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036258", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "viral budding via host ESCRT complex", "id": "GO:0039702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039702", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "multivesicular body sorting pathway", "id": "GO:0071985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071985", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "late endosomal microautophagy", "id": "GO:0061738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061738", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "positive regulation of viral budding via host ESCRT complex", "id": "GO:1903774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903774", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q8VEJ9", "url": "https://www.uniprot.org/uniprotkb/Q8VEJ9" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": 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"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": "B1ART1-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Asn205", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RLDVAEFSIYWDVNCTLLGDLPQAELQEAMAR", "relation": "attached", "comment": "reported site N211 is on non-canonical isoform B1ART2-1 which maps to canonical isoform site B1ART1-1:205", "icn3d_view": {}, "start_pos": 205, "start_aa": "Asn", "end_pos": 205, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn205", "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", 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epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", 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"url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "negative regulation of autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "response to other organism", "id": "GO:0051707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051707", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate biosynthetic process", "id": "GO:0036092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036092", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { 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"name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", 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"GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "response to mitochondrial depolarisation", "id": "GO:0098780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098780", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "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": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "receptor catabolic process", "id": "GO:0032801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032801", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "late endosome to vacuole transport", "id": "GO:0045324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045324", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "cellular response to aluminum ion", "id": "GO:0071275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071275", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "positive regulation of attachment of mitotic spindle microtubules to kinetochore", "id": "GO:1902425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902425", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "negative regulation of lysosome organization", "id": "GO:1905672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905672", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "positive regulation of autophagosome assembly", "id": "GO:2000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000786", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "positive regulation of stress granule assembly", "id": "GO:0062029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062029", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "O88597", "url": "https://www.uniprot.org/uniprotkb/O88597" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": 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Enhanced proton transfer; when associated with A-95.", "evidence": [ { "database": "UniProtKB", "id": "P23589", "url": "https://www.uniprot.org/uniprotkb/P23589" }, { "database": "PubMed", "id": "9882455", "url": "https://glygen.org/publication/PubMed/9882455" }, { "database": "PubMed", "id": "11851394", "url": "https://glygen.org/publication/PubMed/11851394" }, { "database": "PubMed", "id": "8794740", "url": "https://glygen.org/publication/PubMed/8794740" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "No effect on carbonate dehydratase activity.", "evidence": [ { "database": "UniProtKB", "id": "P23589", "url": "https://www.uniprot.org/uniprotkb/P23589" }, { "database": "PubMed", "id": "9882455", "url": "https://glygen.org/publication/PubMed/9882455" }, { "database": "PubMed", "id": "11851394", "url": "https://glygen.org/publication/PubMed/11851394" }, { "database": "PubMed", "id": "8794740", "url": "https://glygen.org/publication/PubMed/8794740" } ] } ] }, { "uniprot_canonical_ac": "P23589-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Tyr94", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on carbonate dehydratase activity.", "evidence": [ { "database": "UniProtKB", "id": "P23589", "url": "https://www.uniprot.org/uniprotkb/P23589" }, { "database": "PubMed", "id": "7479916", "url": "https://glygen.org/publication/PubMed/7479916" }, { "database": "PubMed", "id": "8794740", "url": "https://glygen.org/publication/PubMed/8794740" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "No effect on carbonate dehydratase activity. Enhanced proton transfer due to removal of the steric hindrance of F-95; when associated with A-95.", "evidence": [ { "database": "UniProtKB", "id": "P23589", "url": "https://www.uniprot.org/uniprotkb/P23589" }, { "database": "PubMed", "id": "7479916", "url": "https://glygen.org/publication/PubMed/7479916" }, { "database": "PubMed", "id": "8794740", "url": "https://glygen.org/publication/PubMed/8794740" } ] } ] }, { "uniprot_canonical_ac": "P23589-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Phe95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "No effect on carbonate dehydratase activity. 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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: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: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: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:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14731", "name": "Weaver syndrome", "description": "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:14731", "evidence": [ { "id": "14731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14731" } ], "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: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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5176", "name": "renal Wilms' tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5176", "evidence": [ { "id": "5176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5176" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells.", "url": "https://disease-ontology.org/term/DOID:707", "evidence": [ { "id": "707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:707" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "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: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 }, { "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 epidermal cell differentiation", "id": "GO:0045605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045605", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "subtelomeric heterochromatin formation", "id": "GO:0031509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031509", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "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": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "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": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "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": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "cerebellar cortex development", "id": "GO:0021695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021695", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "cellular response to trichostatin A", "id": "GO:0035984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035984", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q61188", "url": "https://www.uniprot.org/uniprotkb/Q61188" } ], "pmid": "" }, { "name": "regulation of gliogenesis", "id": "GO:0014013", "url": 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"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: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" } ], 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"https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.", "url": "https://disease-ontology.org/term/DOID:3114", "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. 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It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3702", "name": "cervical adenocarcinoma", "description": "A cervix carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3702", "evidence": [ { "id": "3702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "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: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:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).", "url": "https://disease-ontology.org/term/DOID:5744", "evidence": [ { "id": "5744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:5940", "name": "malignant peripheral nerve sheath tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5940", "evidence": [ { "id": "5940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ], "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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.", "url": "https://disease-ontology.org/term/DOID:7575", "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ], "weight": 0.0 }, { "disease_id": "DOID:7614", "name": "meninges sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7614", "evidence": [ { "id": "7614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "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": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "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": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "viral process", "id": "GO:0016032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016032", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "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": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "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": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "positive regulation of thymocyte apoptotic process", "id": "GO:0070245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070245", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance via telomerase", "id": "GO:0032211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032211", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "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": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P02340", "url": "https://www.uniprot.org/uniprotkb/P02340" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": 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} ] } ], "record_id": "A0A668KLD8-1" }, { "uniprot_canonical_ac": "O35625-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35625", "url": "https://www.uniprot.org/uniprotkb/O35625" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 863, "chemical_mass": 96276.0, "gene_names": "Axin1;Axin1;Axin;Fu;Kb;Ki;fused;kinky;knobbly", "protein_name": "Axin-1", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary 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"DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "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:18", "name": "urinary system disease", "description": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.", "url": "https://disease-ontology.org/term/DOID:18", "evidence": [ { "id": "18", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:18" } ], "weight": 0.0 }, { "disease_id": "DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": 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"https://www.alliancegenome.org/disease/DOID:1882" } ], "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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": 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"name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "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": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "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": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "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": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "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": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "regulation of endothelial cell proliferation", "id": "GO:0001936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001936", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": 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myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "ameloblast differentiation", "id": "GO:0036305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036305", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": 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"P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal stem cell proliferation", "id": "GO:1902462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902462", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "regulation of cartilage development", "id": "GO:0061035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061035", "evidence": [ { 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"" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "mesodermal cell fate determination", "id": "GO:0007500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007500", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": 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"" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "intermediate mesodermal cell differentiation", "id": "GO:0048392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048392", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": 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structure", "id": "GO:0060688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060688", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of hepatocyte differentiation", "id": "GO:0070368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070368", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "specification of segmental identity, mandibular segment", "id": "GO:0042305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042305", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "positive regulation of primary miRNA processing", "id": "GO:2000636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000636", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "heart induction", "id": "GO:0003129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003129", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P21275", "url": "https://www.uniprot.org/uniprotkb/P21275" } ], "pmid": 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system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "regulation of phosphorylation", "id": "GO:0042325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042325", "evidence": [ { "database": "UniProtKB", "id": "P23359", "url": "https://www.uniprot.org/uniprotkb/P23359" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033673", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "chondrocyte proliferation", "id": "GO:0035988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035988", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "regulation of tissue remodeling", "id": "GO:0034103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034103", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix disassembly", "id": "GO:0090091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090091", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { "name": "collagen-activated tyrosine kinase receptor signaling pathway", "id": "GO:0038063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038063", "evidence": [ { "database": "UniProtKB", "id": "Q62371", "url": "https://www.uniprot.org/uniprotkb/Q62371" } ], "pmid": "" }, { 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"evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": 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Does not affect inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "35568199", "url": "https://glygen.org/publication/PubMed/35568199" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "2472", "end_pos": "2472", "site_lbl": "Arg2472", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Does not affect binding to the ERLIN1:ERLIN2:RNF170 complex. Does not affect inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "35568199", "url": "https://glygen.org/publication/PubMed/35568199" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "2496", "end_pos": "2496", "site_lbl": "Cys2496", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on channel activity. Significant decrease of interaction with ERP44. Complete loss of channel inhibition by ERP44.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "15652484", "url": "https://glygen.org/publication/PubMed/15652484" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "2504", "end_pos": "2504", "site_lbl": "Cys2504", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on channel activity. Significant decrease of interaction with ERP44. Complete loss of channel inhibition by ERP44.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "15652484", "url": "https://glygen.org/publication/PubMed/15652484" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "2527", "end_pos": "2527", "site_lbl": "Cys2527", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Complete loss of channel activity. Significant decrease of interaction with ERP44.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "15652484", "url": "https://glygen.org/publication/PubMed/15652484" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "2550", "end_pos": "2550", "site_lbl": "Asp2550", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "35568199", "url": "https://glygen.org/publication/PubMed/35568199" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "2596", "end_pos": "2596", "site_lbl": "Arg2596", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "35568199", "url": "https://glygen.org/publication/PubMed/35568199" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes inositol 1,4,5-triphosphate binding.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "12442173", "url": "https://glygen.org/publication/PubMed/12442173" } ] } ] }, { "uniprot_canonical_ac": "P11881-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Tyr567", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes inositol 1,4,5-triphosphate binding.", "evidence": [ { 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"uniprot_canonical_ac": "P11881-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Cys849", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Strongly reduced palmitoylation; when associated with A-56 and A-2215.", "evidence": [ { "database": "UniProtKB", "id": "P11881", "url": "https://www.uniprot.org/uniprotkb/P11881" }, { "database": "PubMed", "id": "25368151", "url": "https://glygen.org/publication/PubMed/25368151" } ] } ] } ], "record_id": "P11881-1" }, { "uniprot_canonical_ac": "P97299-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 295, "chemical_mass": 33469.0, "gene_names": "Sfrp2;Sarp1;Sdf5;Sfrp2", "protein_name": "Secreted frizzled-related protein 2", "disease": [ { "disease_id": "DOID:5844", "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "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": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "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": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "regulation of Wnt signaling pathway", "id": "GO:0030111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030111", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P97299", "url": "https://www.uniprot.org/uniprotkb/P97299" } ], "pmid": "" }, { "name": "branching 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"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: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: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: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: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:4531", "name": "mucoepidermoid carcinoma", "description": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.", "url": "https://disease-ontology.org/term/DOID:4531", "evidence": [ { "id": "4531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4531" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "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:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "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": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of protein localization to plasma membrane", "id": "GO:1903077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903077", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cell-cell junction assembly", "id": "GO:0007043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007043", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "desmosome assembly", "id": "GO:0002159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002159", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "regulation of branching involved in salivary gland morphogenesis", "id": "GO:0060693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060693", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "salivary gland cavitation", "id": "GO:0060662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060662", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "regulation of protein localization to cell surface", "id": "GO:2000008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000008", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cellular response to indole-3-methanol", "id": "GO:0071681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071681", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "regulation of neuron migration", "id": "GO:2001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001222", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "uterine epithelium development", "id": "GO:0035847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035847", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "regulation of protein catabolic process at postsynapse, modulating synaptic transmission", "id": "GO:0099576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099576", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "response to heparin", "id": "GO:0071503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071503", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "response to Gram-positive bacterium", "id": "GO:0140459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140459", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P09803", "url": "https://www.uniprot.org/uniprotkb/P09803" } ], "pmid": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002060" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Val367", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107384907", "evidence": [ { "id": "rs3389002010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002010" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Val417", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107386327", "evidence": [ { "id": "rs237085234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237085234" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Pro44", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107331001", "evidence": [ { "id": "rs238422359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238422359" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Leu468", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107387503", "evidence": [ { "id": "rs3389009868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009868" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Arg493", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107387580", "evidence": [ { "id": "rs223689260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223689260" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Glu496", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107387587", "evidence": [ { "id": "rs3547053188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547053188" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Asp500", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107387599", "evidence": [ { "id": "rs3388985477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388985477" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Arg50", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107331020", "evidence": [ { "id": "rs252395776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252395776" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ala543", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107388573", "evidence": [ { "id": "rs3388985478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388985478" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ala548", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107388587", "evidence": [ { "id": "rs3546863147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546863147" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Thr570", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107388653", "evidence": [ { "id": "rs3389009867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009867" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Gln606", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390478", "evidence": [ { "id": "rs3389006905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006905" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Ala636", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390568", "evidence": [ { "id": "rs49743322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49743322" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Arg65", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107375657", "evidence": [ { "id": "rs241462417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241462417" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Arg67", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107375662", "evidence": [ { "id": "rs3413107503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413107503" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Val685", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390938", "evidence": [ { "id": "rs265321078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265321078" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Cys688", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390948", "evidence": [ { "id": "rs3389014777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389014777" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Lys699", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390981", "evidence": [ { "id": "rs3389002039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002039" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Arg6", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107330143", "evidence": [ { "id": "rs47362571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47362571" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ile702", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390989", "evidence": [ { "id": "rs13459475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13459475" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Ala704", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107390996", "evidence": [ { "id": "rs13459477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13459477" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Ile712", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107391020", "evidence": [ { "id": "rs3389014821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389014821" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Leu728", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107392038", "evidence": [ { "id": "rs3389006124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006124" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Ser75", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107375687", "evidence": [ { "id": "rs3388989560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989560" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107375686", "evidence": [ { "id": "rs234006411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234006411" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "766", "end_pos": "766", "site_lbl": "Asp766", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107392152", "evidence": [ { "id": "rs3389002071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002071" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Asp768", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389011178" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Ile809", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107392943", "evidence": [ { "id": "rs3388977301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977301" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Glu838", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107395106", "evidence": [ { "id": "rs3388996909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388996909" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Glu843", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107395120", "evidence": [ { "id": "rs3388989536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989536" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Gln859", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "8", "chr_pos": "107395169", "evidence": [ { "id": "rs262896214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262896214" } ] } ] }, { "uniprot_canonical_ac": "P09803-1", "start_pos": "874", "end_pos": "874", "site_lbl": 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"url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "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": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "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": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "positive regulation of PERK-mediated unfolded protein response", "id": "GO:1903899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903899", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901029", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902237", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling 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"https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "regulation of granulosa cell apoptotic process", "id": "GO:1904708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904708", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "response to cisplatin", "id": "GO:0072718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072718", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35425-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35425", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35425" } ] } ] }, { "uniprot_canonical_ac": "O35425-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Lys160", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Increases protein expression and stability; when associated with R-25, R-32 and R-177. 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Increases apoptosis; when associated with R-25, R-32 and R-160.", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "26949185", "url": "https://glygen.org/publication/PubMed/26949185" } ] } ] }, { "uniprot_canonical_ac": "O35425-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Lys25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Increases protein expression and stability; when associated with R-32, R-160 and R-177. 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Triggers apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "27053113", "url": "https://glygen.org/publication/PubMed/27053113" } ] } ] }, { "uniprot_canonical_ac": "O35425-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Leu71", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "No change in apoptosis induction; when associated with Q-74 and Q-78.", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "9535847", "url": "https://glygen.org/publication/PubMed/9535847" } ] } ] }, { "uniprot_canonical_ac": "O35425-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Leu74", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "No change in apoptosis induction; when associated with Q-71 and Q-78.", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "9535847", "url": "https://glygen.org/publication/PubMed/9535847" } ] } ] }, { "uniprot_canonical_ac": "O35425-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Asp76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Disrupts homodimerization. Positively regulates intrinsic apoptotic signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "23429263", "url": "https://glygen.org/publication/PubMed/23429263" } ] } ] }, { "uniprot_canonical_ac": "O35425-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Leu78", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "No change in apoptosis induction; when associated with Q-71 and Q-74.", "evidence": [ { "database": "UniProtKB", "id": "O35425", "url": "https://www.uniprot.org/uniprotkb/O35425" }, { "database": "PubMed", "id": "9535847", "url": "https://glygen.org/publication/PubMed/9535847" } ] } ] } ], "record_id": "O35425-1" }, { "uniprot_canonical_ac": "O35658-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 278, "chemical_mass": 31013.0, "gene_names": "C1qbp;Gc1qbp", "protein_name": "Complement component 1 Q subcomponent-binding protein, mitochondrial", "disease": [ { "disease_id": "DOID:0111495", "name": "combined oxidative phosphorylation deficiency 33", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.", "url": "https://disease-ontology.org/term/DOID:0111495", "evidence": [ { "id": "0111495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111495" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of double-strand break repair via homologous recombination", "id": "GO:2000042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000042", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "O35658", "url": "https://www.uniprot.org/uniprotkb/O35658" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ 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"https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283182", "evidence": [ { "id": "rs3388590283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388590283" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Ser619", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89103", "url": "https://www.uniprot.org/uniprotkb/O89103" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283489", "evidence": [ { "id": "rs3388590304", "database": "dbSNP", "url": 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"https://www.uniprot.org/uniprotkb/O89103" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "O89103", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89103" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asp107", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148285025", "evidence": [ { "id": "rs3388599833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599833" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Leu149", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284898", "evidence": [ { "id": "rs3388591396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388591396" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "152", "end_pos": "152", "site_lbl": "His152", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284890", "evidence": [ { "id": "rs3388599985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599985" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Cys164", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284854", "evidence": [ { "id": "rs3388599817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599817" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Gln16", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148285298", "evidence": [ { "id": "rs3388594926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594926" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Gly260", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284566", "evidence": [ { "id": "rs3388599993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599993" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284555", "evidence": [ { "id": "rs29880912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29880912" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Asn265", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284551", "evidence": [ { "id": "rs3388596643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596643" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Asp271", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284532", "evidence": [ { "id": "rs3388590375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388590375" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ala298", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284452", "evidence": [ { "id": "rs3388601755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388601755" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284449", "evidence": [ { "id": "rs3388590371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388590371" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Arg300", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284447", "evidence": [ { "id": "rs3388591101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388591101" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284359", "evidence": [ { "id": "rs3388591129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388591129" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Asp342", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284319", "evidence": [ { "id": "rs3388600849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600849" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284264", "evidence": [ { "id": "rs238072308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238072308" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Val368", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284267_148284268insAGGATTGTGTCAACACTCTAGGGAGCTTCCACTGTGAATGTTGGGTTGGCTACCAACATTCACAGTGGAAGCT", "evidence": [ { "id": "rs3392398016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392398016" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Gln421", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284083", "evidence": [ { "id": "rs3388599781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599781" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Ser429", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284059", "evidence": [ { "id": "rs27278269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27278269" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284060", "evidence": [ { "id": "rs3388599454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599454" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Lys42", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148285221", "evidence": [ { "id": "rs3388598886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388598886" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Asp444", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148284015", "evidence": [ { "id": "rs3388584000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388584000" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Leu457", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283976", "evidence": [ { "id": "rs3388584077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388584077" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Gly461", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283964_148283965insTCCACACTACCTCAACCATCACT", "evidence": [ { "id": "rs3388600881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600881" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Val462", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283960", "evidence": [ { "id": "rs3388601667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388601667" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Ser465", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283951", "evidence": [ { "id": "rs3388596613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596613" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283951", "evidence": [ { "id": "rs3388596613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596613" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Gly467", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283945", "evidence": [ { "id": "rs3392340356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392340356" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Glu481", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283904", "evidence": [ { "id": "rs3388591403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388591403" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Asn483", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283896", "evidence": [ { "id": "rs245494888", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245494888" } ] } ] }, { "uniprot_canonical_ac": "O89103-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Arg486", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "2", "chr_pos": "148283888", "evidence": [ { "id": "rs3388599522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599522" } ] } ] }, { 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"GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q8C6A8", "url": "https://www.uniprot.org/uniprotkb/Q8C6A8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C6A8", "url": "https://www.uniprot.org/uniprotkb/Q8C6A8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C6A8", "url": "https://www.uniprot.org/uniprotkb/Q8C6A8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C6A8-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Thr195", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "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.", 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"evidence": [ { "database": "UniProtKB", "id": "O55003", "url": "https://www.uniprot.org/uniprotkb/O55003" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "O55003", "url": "https://www.uniprot.org/uniprotkb/O55003" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "O55003", "url": "https://www.uniprot.org/uniprotkb/O55003" } ], "pmid": "" }, { "name": "mitochondrial protein catabolic process", "id": "GO:0035694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035694", "evidence": [ { "database": "UniProtKB", "id": "O55003", "url": "https://www.uniprot.org/uniprotkb/O55003" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000138", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "desmosome", "id": "GO:0030057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030057", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "binding of sperm to zona pellucida", "id": "GO:0007339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007339", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "leukocyte migration", "id": "GO:0050900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050900", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "acute inflammatory response", "id": "GO:0002526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002526", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "penetration of zona pellucida", "id": "GO:0007341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007341", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "oligosaccharide biosynthetic process", "id": "GO:0009312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009312", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "development of secondary sexual characteristics", "id": "GO:0045136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045136", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in mammary gland involution", "id": "GO:0060058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060058", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "epithelial cell development", "id": "GO:0002064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002064", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "lactose biosynthetic process", "id": "GO:0005989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005989", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "regulation of acrosome reaction", "id": "GO:0060046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060046", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in wound healing", "id": "GO:0060054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060054", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "angiogenesis involved in wound healing", "id": "GO:0060055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060055", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "positive regulation of circulating fibrinogen levels", "id": "GO:0061755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061755", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" } ], "molecular_function": [ { "name": "galactosyltransferase activity", "id": "GO:0008378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008378", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity", "id": "GO:0003831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003831", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": "https://www.uniprot.org/uniprotkb/P15535" } ], "pmid": "" }, { "name": "N-acetyllactosamine synthase activity", "id": "GO:0003945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003945", "evidence": [ { "database": "UniProtKB", "id": "P15535", "url": 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proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "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": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "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": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "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": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "endocardial cushion 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"negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix constituent secretion", "id": "GO:0003331", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0036305", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035360", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "atrioventricular canal morphogenesis", 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"mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of steroid biosynthetic process", "id": "GO:0010894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010894", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of phosphatase activity", "id": "GO:0010922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010922", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "telencephalon regionalization", "id": "GO:0021978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021978", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "negative regulation of aldosterone biosynthetic process", "id": "GO:0032348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032348", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "cardiocyte differentiation", "id": "GO:0035051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035051", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "embryonic heart tube anterior/posterior pattern specification", "id": "GO:0035054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035054", "evidence": [ { "database": "UniProtKB", "id": "P21274", 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"https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "cardiac atrium formation", "id": "GO:0003210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003210", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "aortic valve development", "id": "GO:0003176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003176", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "cardiac jelly development", "id": "GO:1905072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905072", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "heart induction", "id": "GO:0003129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003129", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "endodermal-mesodermal cell signaling", "id": "GO:0003133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003133", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprotkb/P21274" } ], "pmid": "" }, { 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Knockin mice develop age-dependent desmin-positive protein aggregation pathology, skeletal muscle weakness, dilated cardiomyopathy, as well as cardiac arrhythmias and conduction defects. Knockin mice exhibit altered axial myofibrillar lattice arrangement in fast- and slow-twitch muscle fibers, increased axial stiffness and stretch-induced vulnerability in soleus muscle fiber bundles, reduced Ca(2+)-sensitivity in heterozygous fiber bundles and increased Ca(2+)-sensitivity in homozygous fiber bundles.", "evidence": [ { "database": "UniProtKB", "id": "P31001", "url": "https://www.uniprot.org/uniprotkb/P31001" }, { "database": "PubMed", "id": "25394388", "url": "https://glygen.org/publication/PubMed/25394388" } ] } ] } ], "record_id": "P31001-1" }, { "uniprot_canonical_ac": "Q91VN6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 622, "chemical_mass": 69820.0, "gene_names": "Ddx41;2900024F02Rik;ABS;Ddx41", "protein_name": "Probable ATP-dependent RNA helicase DDX41", "disease": [ { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], 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"evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "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": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", 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"iPTMnet", "id": "Q91VN6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91VN6" } ] } ] }, { "uniprot_canonical_ac": "Q91VN6-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91VN6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91VN6" } ] } ] }, { "uniprot_canonical_ac": "Q91VN6-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Tyr33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91VN6", "url": "https://www.uniprot.org/uniprotkb/Q91VN6" }, { "database": "PubMed", "id": "21183079", "url": 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"https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QY15", "url": "https://www.uniprot.org/uniprotkb/Q9QY15" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", 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homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0070165", "evidence": [ { "id": "0070165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070165" } ], "weight": 0.0 }, { "disease_id": "DOID:0080266", "name": "primary ciliary dyskinesia 37", "description": "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0080266", "evidence": [ { "id": "0080266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080266" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cilium movement involved in cell motility", "id": "GO:0060294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060294", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in extracellular fluid movement", "id": "GO:0003351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003351", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "inner dynein arm assembly", "id": "GO:0036159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036159", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "minus-end-directed microtubule motor activity", "id": "GO:0008569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008569", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "E9Q8T7", "url": "https://www.uniprot.org/uniprotkb/E9Q8T7" } ], "pmid": "" }, { "name": "dynein 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normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13133", "name": "HELLP syndrome", "description": "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.", "url": "https://disease-ontology.org/term/DOID:13133", "evidence": [ { "id": "13133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13133" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13767", "name": "clonorchiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.", "url": "https://disease-ontology.org/term/DOID:13767", "evidence": [ { "id": "13767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13767" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "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: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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2475", "name": "chronic conjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2475", "evidence": [ { "id": "2475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2475" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "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: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:3492", "name": "mixed connective tissue disease", "description": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.", "url": "https://disease-ontology.org/term/DOID:3492", "evidence": [ { "id": "3492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ], "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: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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4692", "name": "endophthalmitis", "description": "A globe disease that is characterized by inflammation of the inside of the eye.", "url": "https://disease-ontology.org/term/DOID:4692", "evidence": [ { "id": "4692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4692" } ], "weight": 0.0 }, { "disease_id": "DOID:4752", "name": "multiple system atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:4752", "evidence": [ { "id": "4752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4752" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6688", "name": "autoimmune lymphoproliferative syndrome", "description": "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.", "url": "https://disease-ontology.org/term/DOID:6688", "evidence": [ { "id": "6688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6688" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "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:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P25446", "url": "https://www.uniprot.org/uniprotkb/P25446" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P25446", "url": "https://www.uniprot.org/uniprotkb/P25446" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P25446", "url": "https://www.uniprot.org/uniprotkb/P25446" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P25446", "url": "https://www.uniprot.org/uniprotkb/P25446" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P25446", "url": "https://www.uniprot.org/uniprotkb/P25446" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P25446", "url": "https://www.uniprot.org/uniprotkb/P25446" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor activity", "id": 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"description": "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.", "url": "https://disease-ontology.org/term/DOID:11088", "evidence": [ { "id": "11088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11088" } ], "weight": 0.0 }, { "disease_id": "DOID:11294", "name": "arteriovenous malformation", "description": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.", "url": "https://disease-ontology.org/term/DOID:11294", "evidence": [ { "id": "11294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11294" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": 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"name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "CA3 pyramidal cell dendrite", "id": "GO:0097442", 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"https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": "https://www.uniprot.org/uniprotkb/P20357" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P20357", "url": 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thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0061115", "evidence": [ { "id": "0061115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061115" } ], "weight": 0.0 }, { "disease_id": "DOID:0080194", "name": "Carey-Fineman-Ziter syndrome", "description": "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.", "url": "https://disease-ontology.org/term/DOID:0080194", "evidence": [ { "id": "0080194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080194" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": 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"name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": 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"database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cytokinetic process", "id": "GO:0032506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032506", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "blood vessel endothelial cell migration", "id": "GO:0043534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043534", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "follicle-stimulating hormone signaling pathway", "id": "GO:0042699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042699", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "establishment of meiotic spindle localization", "id": "GO:0051295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051295", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "meiotic spindle organization", "id": "GO:0000212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000212", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "establishment of T cell polarity", "id": "GO:0001768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001768", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "uropod organization", "id": "GO:0032796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032796", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "negative regulation of actin filament severing", "id": "GO:1903919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903919", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "regulation of actin filament organization", "id": "GO:0110053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110053", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell migration", "id": "GO:1904753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904753", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "actin filament bundle distribution", "id": "GO:0070650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070650", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "regulation of plasma membrane repair", "id": "GO:1905684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905684", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cortical granule exocytosis", "id": "GO:0060471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060471", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "follicle-stimulating hormone receptor binding", "id": "GO:0031762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031762", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "actin filament", "id": 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"https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q8VDD5", "url": "https://www.uniprot.org/uniprotkb/Q8VDD5" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": 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movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q61879", "url": "https://www.uniprot.org/uniprotkb/Q61879" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "Q61879", "url": "https://www.uniprot.org/uniprotkb/Q61879" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "Q61879", "url": "https://www.uniprot.org/uniprotkb/Q61879" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q61879", "url": "https://www.uniprot.org/uniprotkb/Q61879" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": 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"chemical_mass": 420089.0, "gene_names": "Vps13c;C230055H22Rik;Kiaa3021;Vps13c;chorein", "protein_name": "Intermembrane lipid transfer protein VPS13C", "disease": [ { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0050766", "name": "choreaacanthocytosis", "description": "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.", "url": "https://disease-ontology.org/term/DOID:0050766", "evidence": [ { "id": "0050766", "database": "AGR", "url": 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In the testis, mutant germ cells carry out an abortive attempt at meiosis: They express hallmark meiotic proteins and initiate recombination, but fail to fully extinguish the spermatogonial mitotic division program, proceed prematurely to an aberrant metaphase-like state, and undergo apoptosis. The mutation probably causes misfolding or protein aggregation. Slightly reduced helicase activity.", "evidence": [ { "database": "UniProtKB", "id": "B2RR83", "url": "https://www.uniprot.org/uniprotkb/B2RR83" }, { "database": "PubMed", "id": "29360036", "url": "https://glygen.org/publication/PubMed/29360036" } ] } ] } ], "record_id": "B2RR83-1" }, { "uniprot_canonical_ac": "Q8R0T2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 568, "chemical_mass": 62711.0, "gene_names": "Zfp768;Znf768;Zfp768;Znf768", "protein_name": "Zinc finger protein 768", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ], "pmid": "" }, { "name": 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{ "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": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ], "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": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": 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"weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Tyr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { 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"317", "end_pos": "317", "site_lbl": "Tyr317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Ser327", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Thr35", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R0T2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R0T2", "url": "https://www.uniprot.org/uniprotkb/Q8R0T2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R0T2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R0T2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0T2-1", "start_pos": "424", 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"Zap70;Srk;ZAP-70;Zap-70;Zap70;mrtle;mur", "protein_name": "Tyrosine-protein kinase ZAP-70", "disease": [ { "disease_id": "DOID:0061161", "name": "infantile onset multisystem autoimmune disease 2", "description": "An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12.", "url": "https://disease-ontology.org/term/DOID:0061161", "evidence": [ { "id": "0061161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111943", "name": "immunodeficiency 48", "description": "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.", "url": "https://disease-ontology.org/term/DOID:0111943", "evidence": [ { "id": "0111943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111943" } ], "weight": 0.0 }, { "disease_id": "DOID:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "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 } ], "biological_process": [ { "name": "thymic T cell selection", "id": 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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 } ], "molecular_function": [ { "name": "zinc ion transmembrane transporter activity", "id": "GO:0005385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cadmium ion binding", "id": "GO:0046870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046870", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "solute:proton symporter activity", "id": "GO:0015295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015295", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "copper ion transmembrane transporter activity", "id": "GO:0005375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005375", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "nickel cation binding", "id": "GO:0016151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016151", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cobalt ion binding", "id": "GO:0050897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050897", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "manganese ion transmembrane transporter activity", "id": "GO:0005384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005384", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cadmium ion transmembrane transporter activity", "id": "GO:0015086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015086", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cobalt ion transmembrane transporter activity", "id": "GO:0015087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015087", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "ferrous iron transmembrane transporter activity", "id": "GO:0015093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015093", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "lead ion transmembrane transporter activity", "id": "GO:0015094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015094", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "nickel cation transmembrane transporter activity", "id": "GO:0015099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015099", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "vanadium ion transmembrane transporter activity", "id": "GO:0015100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015100", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "transition metal ion transmembrane transporter activity", "id": "GO:0046915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046915", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "iron ion transmembrane transporter activity", "id": "GO:0005381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005381", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "retromer complex binding", "id": "GO:1905394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905394", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" } ], "biological_process": [ { "name": "iron ion transmembrane transport", "id": "GO:0034755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034755", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "porphyrin-containing compound biosynthetic process", "id": "GO:0006779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006779", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "copper ion transport", "id": "GO:0006825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006825", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "manganese ion transport", "id": "GO:0006828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006828", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "intracellular manganese ion homeostasis", "id": "GO:0030026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030026", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "multicellular organismal-level iron ion homeostasis", "id": "GO:0060586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060586", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "nickel cation transport", "id": "GO:0015675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015675", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "vanadium ion transport", "id": "GO:0015676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015676", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "lead ion transport", "id": "GO:0015692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015692", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cadmium ion transmembrane transport", "id": "GO:0070574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070574", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "porphyrin-containing compound metabolic process", "id": "GO:0006778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006778", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "copper ion import across plasma membrane", "id": "GO:0098705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098705", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cobalt ion transport", "id": "GO:0006824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006824", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "transition metal ion transport", "id": "GO:0000041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000041", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "iron import into cell", "id": "GO:0033212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033212", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": "https://www.uniprot.org/uniprotkb/P49282" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P49282", "url": 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encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "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:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of 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"https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "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": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "cadmium ion binding", "id": "GO:0046870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046870", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "sodium channel regulator activity", "id": "GO:0017080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017080", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-nitrosylase activity", "id": "GO:0035605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035605", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0J4" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0J4", "url": 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Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death.", "url": "https://disease-ontology.org/term/DOID:11589", "evidence": [ { "id": "11589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11589" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ], "pmid": "" }, { "name": "elongator holoenzyme complex", "id": "GO:0033588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033588", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA wobble uridine modification", "id": "GO:0002098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002098", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ], "pmid": "" }, { "name": "I-kappaB phosphorylation", "id": "GO:0007252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007252", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ], "pmid": "" }, { "name": "tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation", "id": "GO:0002926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002926", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TT37-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 160, "start_aa": "Thr", "end_pos": 160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr160", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TT37-1", "start_pos": "1172", "end_pos": "1172", "site_lbl": "Ser1172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ] } ] }, { "uniprot_canonical_ac": "Q7TT37-1", "start_pos": "1175", "end_pos": "1175", "site_lbl": "Ser1175", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ] } ] }, { "uniprot_canonical_ac": "Q7TT37-1", "start_pos": "805", "end_pos": "805", "site_lbl": "Ser805", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT37", "url": "https://www.uniprot.org/uniprotkb/Q7TT37" } ] } ] } ], "record_id": "Q7TT37-1" }, { "uniprot_canonical_ac": "Q8BFR5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 452, "chemical_mass": 49508.0, "gene_names": "Tufm;2300002G02Rik;EF-TuMT;EFTU;Tufm", "protein_name": "Elongation factor Tu, mitochondrial", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 }, { "disease_id": "DOID:0111494", "name": "combined oxidative phosphorylation 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"database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" }, { "name": "translation elongation factor activity", "id": "GO:0003746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003746", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translational elongation", "id": "GO:0070125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070125", "evidence": [ { "database": "UniProtKB", "id": "Q8BFR5", "url": "https://www.uniprot.org/uniprotkb/Q8BFR5" } ], "pmid": "" }, { "name": "translational elongation", "id": "GO:0006414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006414", "evidence": [ { "database": "UniProtKB", 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"sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49476308", "evidence": [ { "id": "rs1131754547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131754547" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Asp279", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49476253", "evidence": [ { "id": "rs3389031703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389031703" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Pro309", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49468532", "evidence": [ { "id": "rs3389049746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389049746" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ile31", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49481162", "evidence": [ { "id": "rs3389040696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040696" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Met360", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49457593", "evidence": [ { "id": "rs3389010964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010964" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ala381", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49457529", "evidence": [ { "id": "rs3389040764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389040764" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ala388", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49457509", "evidence": [ { "id": "rs3389023020", "database": "dbSNP", 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}, { "uniprot_canonical_ac": "P13595-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49456985", "evidence": [ { "id": "rs3389045479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045479" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ile454", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49456491", "evidence": [ { "id": "rs3389010934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010934" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Thr468", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49456119", "evidence": [ { "id": "rs3389022980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389022980" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ala47", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "49434935", "evidence": [ { "id": "rs3388990388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388990388" } ] } ] }, { "uniprot_canonical_ac": "P13595-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ile486", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", 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degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", 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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:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "glutamate-gated receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "extracellularly glutamate-gated ion channel activity", "id": "GO:0005234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005234", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "interleukin-1 receptor binding", "id": "GO:0005149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005149", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "D2 dopamine receptor binding", "id": "GO:0031749", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016595", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "NMDA glutamate receptor activity", "id": "GO:0004972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004972", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "id": "GO:0099507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099507", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "NMDA selective glutamate receptor complex", "id": "GO:0017146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017146", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "transport vesicle membrane", "id": "GO:0030658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030658", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "dendritic branch", "id": "GO:0044307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044307", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of long-term synaptic depression", "id": "GO:1900452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900452", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "suckling behavior", "id": "GO:0001967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001967", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor signaling pathway", "id": "GO:0035235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035235", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprotkb/Q01097" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q01097", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P54846", "url": "https://www.uniprot.org/uniprotkb/P54846" } ], "pmid": "" }, { "name": "retinal rod cell development", "id": "GO:0046548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046548", "evidence": [ { "database": "UniProtKB", "id": "P54846", "url": "https://www.uniprot.org/uniprotkb/P54846" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P54846-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P54846", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P54846" }, { "database": "PubMed", "id": "22354990", "url": "https://glygen.org/publication/PubMed/22354990" } ] } ] } ], "record_id": "P54846-1" }, { "uniprot_canonical_ac": "Q3UFB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 799, "chemical_mass": 87738.0, "gene_names": "Ntrk1;Ntrk1;Tkr;TrkA;trk", "protein_name": "High affinity nerve growth factor receptor", "disease": [ { "disease_id": "DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:431", "name": "myofascial pain syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:431", "evidence": [ { "id": "431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:431" } ], "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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": 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"database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "olfactory nerve development", "id": "GO:0021553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021553", "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "behavioral response to formalin induced pain", "id": "GO:0061368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061368", "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "mechanoreceptor differentiation", "id": "GO:0042490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042490", "evidence": [ { "database": 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"UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q3UFB7", "url": "https://www.uniprot.org/uniprotkb/Q3UFB7" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", 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Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein kinase A catalytic subunit binding", "id": "GO:0034236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034236", "evidence": [ { "database": "UniProtKB", "id": "E9Q401", "url": "https://www.uniprot.org/uniprotkb/E9Q401" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "E9Q401", "url": "https://www.uniprot.org/uniprotkb/E9Q401" } ], "pmid": "" }, { "name": "calmodulin 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} ], "pmid": "" }, { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "membrane bending", "id": "GO:0097753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097753", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": 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"database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "positive regulation of membrane tubulation", "id": "GO:1903527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903527", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q62420", "url": "https://www.uniprot.org/uniprotkb/Q62420" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": 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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: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: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": "resolution of meiotic recombination intermediates", "id": "GO:0000712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance", "id": "GO:0032205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032205", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "telomeric DNA-containing double minutes formation", "id": "GO:0061819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061819", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "negative regulation of protection from non-homologous end joining at telomere", "id": "GO:1905765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905765", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "UV protection", "id": "GO:0009650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009650", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance via telomere lengthening", "id": "GO:1904357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904357", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "nucleotide-excision repair involved in interstrand cross-link repair", "id": "GO:1901255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901255", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleotide-excision repair factor 1 complex", "id": "GO:0000110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000110", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "ERCC4-ERCC1 complex", "id": "GO:0070522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070522", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "nucleotide-excision repair complex", "id": "GO:0000109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000109", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "DNA endonuclease activity", "id": "GO:0004520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004520", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "TFIID-class transcription factor complex binding", "id": "GO:0001094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001094", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "3' overhang single-stranded DNA endodeoxyribonuclease activity", "id": "GO:1990599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990599", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QZD4-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ser522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZD4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZD4" } ] } ] }, { "uniprot_canonical_ac": "Q9QZD4-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Ser765", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QZD4", "url": "https://www.uniprot.org/uniprotkb/Q9QZD4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QZD4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QZD4" } ] } ] } ], "record_id": "Q9QZD4-1" }, { "uniprot_canonical_ac": "Q9JIY5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIY5", "url": "https://www.uniprot.org/uniprotkb/Q9JIY5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 458, "chemical_mass": 49348.0, "gene_names": "Htra2;Htra2;Omi;Prss25;mnd2", "protein_name": "Serine protease HTRA2, mitochondrial", "disease": [ { "disease_id": "DOID:0070000", "name": "3-methylglutaconic aciduria type 8", "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0070000", "evidence": [ { "id": "0070000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070000" } ], "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: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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11088", "name": "asphyxia neonatorum", "description": "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.", "url": "https://disease-ontology.org/term/DOID:11088", "evidence": [ { "id": "11088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11088" } ], "weight": 0.0 }, { "disease_id": "DOID:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": 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"pmid": "" }, { "name": "acetylcholine transmembrane transporter activity", "id": "GO:0005277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005277", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "dopamine:sodium symporter activity", "id": "GO:0005330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005330", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "prostaglandin transmembrane transporter activity", "id": "GO:0015132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015132", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "thiamine transmembrane transporter activity", "id": "GO:0015234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015234", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "putrescine transmembrane transporter activity", "id": "GO:0015489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015489", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transporter activity", "id": "GO:1901235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901235", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "pyrimidine nucleoside transmembrane transporter activity", "id": "GO:0015214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015214", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "spermidine transmembrane transporter activity", "id": "GO:0015606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015606", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" } ], "biological_process": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "acetylcholine transport", "id": "GO:0015870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015870", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "metanephric proximal tubule development", "id": "GO:0072237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072237", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "organic cation transport", "id": "GO:0015695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015695", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "dopamine transport", "id": "GO:0015872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015872", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "establishment or maintenance of transmembrane electrochemical gradient", "id": "GO:0010248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010248", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", 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"url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "thiamine transmembrane transport", "id": "GO:0071934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071934", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprotkb/O08966" } ], "pmid": "" }, { "name": "prostaglandin transport", "id": "GO:0015732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015732", "evidence": [ { "database": "UniProtKB", "id": "O08966", "url": 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "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 }, { "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "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": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "tetrahydrobiopterin binding", "id": "GO:0034617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034617", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "cAMP-dependent protein kinase regulator activity", "id": "GO:0008603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008603", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "arginine binding", "id": "GO:0034618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034618", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "P29477", "url": "https://www.uniprot.org/uniprotkb/P29477" } ], "pmid": "" }, { "name": 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"name": "cellular response to aldosterone", "id": "GO:1904045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904045", "evidence": [ { "database": "UniProtKB", "id": "Q9WU39", "url": "https://www.uniprot.org/uniprotkb/Q9WU39" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9WU39", "url": "https://www.uniprot.org/uniprotkb/Q9WU39" } ], "pmid": "" }, { "name": "sensory perception of sour taste", "id": "GO:0050915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050915", "evidence": [ { "database": "UniProtKB", "id": "Q9WU39", "url": "https://www.uniprot.org/uniprotkb/Q9WU39" } ], "pmid": "" }, { "name": "sodium ion homeostasis", "id": "GO:0055078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055078", "evidence": [ { "database": "UniProtKB", "id": "Q9WU39", "url": "https://www.uniprot.org/uniprotkb/Q9WU39" } ], "pmid": "" }, { "name": "multicellular 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"id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of T cell receptor signaling pathway", "id": "GO:0050862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901223", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "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": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "toll-like receptor TLR6:TLR2 signaling pathway", "id": "GO:0038124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038124", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to peptidoglycan", "id": "GO:0071224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071224", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "vascular endothelial growth factor signaling pathway", "id": "GO:0038084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038084", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to hepatocyte growth factor stimulus", "id": "GO:0035729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035729", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell differentiation", "id": "GO:0014040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014040", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "response to UV-B", "id": "GO:0010224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010224", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of miRNA metabolic process", "id": "GO:2000630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000630", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "response to muramyl dipeptide", "id": "GO:0032495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032495", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": "https://www.uniprot.org/uniprotkb/Q04207" } ], "pmid": "" }, { "name": "negative regulation of protein sumoylation", "id": "GO:0033234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033234", "evidence": [ { "database": "UniProtKB", "id": "Q04207", "url": 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"GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q63932", "url": "https://www.uniprot.org/uniprotkb/Q63932" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q63932", "url": "https://www.uniprot.org/uniprotkb/Q63932" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q63932", "url": "https://www.uniprot.org/uniprotkb/Q63932" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q63932", "url": "https://www.uniprot.org/uniprotkb/Q63932" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q63932", "url": "https://www.uniprot.org/uniprotkb/Q63932" }, { "database": "PubMed", "id": "8297798", "url": "https://glygen.org/publication/PubMed/8297798" } ] } ] } ], "record_id": "Q63932-1" }, { "uniprot_canonical_ac": "E9PZQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 5035, "chemical_mass": 565039.0, "gene_names": "Ryr1;RYR-1;Ryr1;Ryr;skrr", "protein_name": "Ryanodine receptor 1", "disease": [ { "disease_id": "DOID:0080990", "name": "King Denborough syndrome", "description": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.", "url": "https://disease-ontology.org/term/DOID:0080990", "evidence": [ { "id": "0080990", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080990" } ], "weight": 0.0 }, { "disease_id": "DOID:0080991", "name": "congenital myopathy 1B", "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.", "url": "https://disease-ontology.org/term/DOID:0080991", "evidence": [ { "id": "0080991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080991" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "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": "https://www.alliancegenome.org/disease/DOID:14557" } ], "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:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ossification involved in bone maturation", "id": "GO:0043931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043931", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum calcium ion transport", "id": "GO:0070296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070296", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "cellular response to caffeine", "id": "GO:0071313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071313", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "regulation of response to osmotic stress", "id": "GO:0047484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047484", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "calcium-induced calcium release activity", "id": "GO:0048763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048763", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "ryanodine-sensitive calcium-release channel activity", "id": "GO:0005219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005219", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "terminal cisterna", "id": "GO:0014802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014802", "evidence": [ { "database": "UniProtKB", "id": "E9PZQ0", "url": "https://www.uniprot.org/uniprotkb/E9PZQ0" } ], "pmid": "" }, { "name": "ryanodine 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transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "apolipoprotein A-I receptor binding", "id": "GO:0034191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034191", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "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": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "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": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "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": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": 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"pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q60644", "url": "https://www.uniprot.org/uniprotkb/Q60644" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q60644-1" }, { "uniprot_canonical_ac": "Q9Z2B5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1114, "chemical_mass": 124682.0, "gene_names": "Eif2ak3;Eif2ak3;Pek;Perk", "protein_name": "Eukaryotic translation initiation factor 2-alpha kinase 3", "disease": [ { "disease_id": "DOID:0090060", "name": "Wolcott-Rallison syndrome", "description": "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.", "url": "https://disease-ontology.org/term/DOID:0090060", "evidence": [ { "id": "0090060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090060" } ], "weight": 0.0 }, { "disease_id": "DOID:5453", "name": "pulmonary venoocclusive disease", "description": "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.", "url": "https://disease-ontology.org/term/DOID:5453", "evidence": [ { "id": "5453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5453" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction 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"url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", 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"Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "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": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "regulation of fatty acid metabolic process", "id": "GO:0019217", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902237", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2B5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2B5" } ], "pmid": "" }, { "name": "ossification", "id": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": 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"name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6W4", "url": "https://www.uniprot.org/uniprotkb/E9Q6W4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 445, "chemical_mass": 47821.0, "gene_names": "Znf296;2210018A16Rik;Zfp296;Znf296", "protein_name": "Zinc finger protein 296", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "E9Q6W4", "url": "https://www.uniprot.org/uniprotkb/E9Q6W4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9Q6W4", "url": "https://www.uniprot.org/uniprotkb/E9Q6W4" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", 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"spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "E9Q6W4", "url": "https://www.uniprot.org/uniprotkb/E9Q6W4" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "E9Q6W4", "url": "https://www.uniprot.org/uniprotkb/E9Q6W4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q6W4-1" }, { "uniprot_canonical_ac": "Q61527-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61527", "url": "https://www.uniprot.org/uniprotkb/Q61527" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1308, "chemical_mass": 146855.0, "gene_names": "Erbb4;Erbb4;Her4;Mer4;c-erbB-4", "protein_name": "Receptor tyrosine-protein 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"database": "UniProtKB", "id": "Q61527", "url": "https://www.uniprot.org/uniprotkb/Q61527" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q61527", "url": "https://www.uniprot.org/uniprotkb/Q61527" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q61527", "url": "https://www.uniprot.org/uniprotkb/Q61527" } ], "pmid": "" }, { "name": "epidermal growth factor receptor activity", "id": "GO:0005006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005006", "evidence": [ { "database": "UniProtKB", "id": "Q61527", "url": "https://www.uniprot.org/uniprotkb/Q61527" } ], "pmid": "" }, { "name": "GABA receptor binding", "id": "GO:0050811", "url": 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"UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" } ], "biological_process": [ { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "protein localization to postsynaptic membrane", "id": "GO:1903539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903539", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "memory", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "modulation of excitatory postsynaptic potential", "id": "GO:0098815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098815", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P35436", "url": "https://www.uniprot.org/uniprotkb/P35436" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": 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"https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "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": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "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": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "white fat cell differentiation", "id": "GO:0050872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050872", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", 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process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" 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"name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "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": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "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": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of cAMP-dependent protein kinase activity", "id": "GO:2000481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000481", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "single strand break repair", "id": "GO:0000012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000012", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902237", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "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": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "triglyceride mobilization", "id": "GO:0006642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006642", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cardiac muscle cell apoptotic process", "id": "GO:0010659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010659", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of phosphorylation", "id": "GO:0042326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042326", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "UV-damage excision repair", "id": "GO:0070914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070914", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of fibroblast apoptotic process", "id": "GO:2000270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000270", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "rDNA heterochromatin formation", "id": "GO:0000183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000183", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of macrophage cytokine production", "id": "GO:0060907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060907", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of triglyceride biosynthetic process", "id": "GO:0010868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010868", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-lysine acetylation", "id": "GO:2000757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000757", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cellular response to resveratrol", "id": "GO:1904639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904639", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "DNA synthesis involved in DNA repair", "id": "GO:0000731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000731", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:1902166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902166", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "intracellular triglyceride homeostasis", "id": "GO:0035356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035356", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of macrophage apoptotic process", "id": "GO:2000111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000111", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of brown fat cell differentiation", "id": "GO:0090335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090335", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of cellular response to testosterone stimulus", "id": "GO:2000655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000655", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of protein deacetylation", "id": "GO:0090312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090312", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "peptidyl-lysine acetylation", "id": "GO:0018394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018394", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "ovulation from ovarian follicle", "id": "GO:0001542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001542", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035358", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of endodeoxyribonuclease activity", "id": "GO:0032071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032071", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of transcription by glucose", "id": "GO:0046015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046015", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell apoptotic process", "id": "GO:0034391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034391", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "leptin-mediated signaling pathway", "id": "GO:0033210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033210", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "signal transduction by p53 class mediator", "id": "GO:0072331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072331", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of signal transduction by p53 class mediator", "id": "GO:1901797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901797", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of protein acetylation", "id": "GO:1901984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901984", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell differentiation", "id": "GO:0051152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051152", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein depropionylation", "id": "GO:0106230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106230", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "maintenance of nucleus location", "id": "GO:0051658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051658", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "negative regulation of attachment of mitotic spindle microtubules to kinetochore", "id": "GO:1902424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902424", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "regulation of multicellular organismal process", "id": "GO:0051239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051239", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" } ], "molecular_function": [ { "name": "keratin filament binding", "id": "GO:1990254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990254", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone H4K16 deacetylase activity, NAD-dependent", "id": "GO:0046970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046970", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "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": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein kinase B binding", "id": "GO:0043422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043422", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": "GO:0043425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043425", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone deacetylase activity, NAD-dependent", "id": "GO:0017136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017136", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone H3K14 deacetylase activity, NAD-dependent", "id": "GO:0032041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032041", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "HLH domain binding", "id": "GO:0043398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043398", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "NAD-dependent protein lysine deacetylase activity", "id": "GO:0034979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034979", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone H3K9 deacetylase activity, NAD-dependent", "id": "GO:0046969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046969", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "promoter-specific 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"name": "NAD-dependent protein-lysine depropionylase activity", "id": "GO:0106231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106231", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone H4K12 deacetylase activity, hydrolytic mechanism", "id": "GO:0140937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140937", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "histone H3K deacetylase activity", "id": "GO:0141050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141050", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "NAD-dependent protein lysine delactylase activity", "id": "GO:0141208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141208", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", 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"" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" }, { "name": "eNoSc complex", "id": "GO:0061773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061773", "evidence": [ { "database": "UniProtKB", "id": "Q923E4", "url": "https://www.uniprot.org/uniprotkb/Q923E4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], 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"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:12253", "name": "testicular lymphoma", "description": "", "url": "https://disease-ontology.org/term/DOID:12253", "evidence": [ { "id": "12253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12253" } ], "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: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: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:3234", "name": "central nervous system lymphoma", "description": "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system.", "url": "https://disease-ontology.org/term/DOID:3234", "evidence": [ { "id": "3234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3234" } ], "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:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "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:7442", "name": "monoclonal gammopathy of uncertain significance", "description": "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.", "url": "https://disease-ontology.org/term/DOID:7442", "evidence": [ { "id": "7442", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7442" } ], "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": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of interleukin-23 production", "id": "GO:0032747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032747", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "neutrophil activation involved in immune response", "id": "GO:0002283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002283", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "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": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "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": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "regulation of interleukin-6 production", "id": "GO:0032675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032675", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "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": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "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": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "establishment of endothelial intestinal barrier", "id": "GO:0090557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090557", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "response to amine", "id": "GO:0014075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014075", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "toll-like receptor TLR6:TLR2 signaling pathway", "id": "GO:0038124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038124", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "Toll signaling pathway", "id": "GO:0008063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008063", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "P22366", "url": "https://www.uniprot.org/uniprotkb/P22366" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": 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"Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q99MK8", "url": "https://www.uniprot.org/uniprotkb/Q99MK8" } ], "pmid": "" }, { "name": "cytoplasmic side of mitochondrial outer membrane", "id": 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"weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512720", "evidence": [ { "id": "rs3550804023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550804023" } ] }, { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512721", "evidence": [ { "id": "rs3550741008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550741008" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Arg272", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512717", "evidence": [ { "id": "rs3550804051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550804051" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Gln275", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512707", "evidence": [ { "id": "rs3550770553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550770553" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Arg280", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512693", "evidence": [ { "id": "rs3550799886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550799886" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Asp281", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512691", "evidence": [ { "id": "rs3550883127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550883127" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Asp289", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20512665", "evidence": [ { "id": "rs3550697000", "database": "dbSNP", "url": 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"site_lbl": "Arg331", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20510469", "evidence": [ { "id": "rs3550857300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550857300" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Pro349", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/annexin.", "chr_id": "14", "chr_pos": "20510416", "evidence": [ { "id": "rs3413087655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413087655" } ] } ] }, { "uniprot_canonical_ac": "Q07076-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "snv": [ { 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"evidence": [ { "database": "UniProtKB", "id": "P98195", "url": "https://www.uniprot.org/uniprotkb/P98195" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P98195-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Asn552", "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": "AIALCHNVTPVYEAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 552, "start_aa": "Asn", "end_pos": 552, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn552", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "P98195-1" }, { "uniprot_canonical_ac": 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"evidence": [ { "database": "UniProtKB", "id": "Q6VVW5", "url": "https://www.uniprot.org/uniprotkb/Q6VVW5" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW5", "url": "https://www.uniprot.org/uniprotkb/Q6VVW5" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW5", "url": "https://www.uniprot.org/uniprotkb/Q6VVW5" } ], "pmid": "" }, { "name": "response to fibroblast growth factor", "id": "GO:0071774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071774", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW5", "url": "https://www.uniprot.org/uniprotkb/Q6VVW5" } ], "pmid": "" }, { "name": "vacuole organization", "id": "GO:0007033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007033", "evidence": [ { "database": "UniProtKB", 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"id": "GO:1902036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902036", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "phosphatidylethanolamine biosynthetic process", "id": "GO:0006646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006646", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "aggrephagy", "id": "GO:0035973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035973", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "protein targeting to vacuole involved in autophagy", "id": "GO:0071211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071211", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "DNA double-strand break processing", "id": "GO:0000729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000729", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of regulatory T cell differentiation", "id": "GO:0045591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045591", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of attachment of mitotic spindle microtubules to kinetochore", "id": "GO:1902425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902425", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "peptidyl-lysine acetylation", "id": "GO:0018394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018394", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of circadian rhythm", "id": "GO:0042753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042753", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "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": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "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": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of aggrephagy", "id": "GO:1905337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905337", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "regulation of chromatin organization", "id": "GO:1902275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902275", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of mitotic sister chromatid segregation", "id": "GO:0062033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062033", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "lipid droplet disassembly", "id": "GO:1905691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905691", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "cGAS/STING signaling pathway", "id": "GO:0140896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140896", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "positive regulation of macromolecule biosynthetic process", "id": "GO:0010557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010557", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "cellular response to oxygen-containing compound", "id": "GO:1901701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901701", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "peptide butyryltransferase activity", "id": "GO:0140065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140065", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "histone H4K16 acetyltransferase activity", "id": "GO:0046972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046972", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "histone H2A acetyltransferase activity", "id": "GO:0043998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043998", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "histone H2AK5 acetyltransferase activity", "id": "GO:0043999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043999", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "peptide crotonyltransferase activity", "id": "GO:0140064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140064", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "peptide 2-hydroxyisobutyryltransferase activity", "id": "GO:0106226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106226", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "peptide lactyltransferase (CoA-dependent) activity", "id": "GO:0120300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120300", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", "url": "https://www.uniprot.org/uniprotkb/Q8CHK4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8CHK4", 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makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080958", "name": "primary hypoalphalipoproteinemia 2", "description": "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, 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tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1387", "name": "hypolipoproteinemia", "description": "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.", "url": "https://disease-ontology.org/term/DOID:1387", "evidence": [ { "id": "1387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1387" } ], "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: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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "apolipoprotein A-I receptor binding", "id": "GO:0034191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034191", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "high-density lipoprotein particle binding", "id": "GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "apolipoprotein receptor binding", "id": "GO:0034190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034190", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "lipase inhibitor activity", "id": "GO:0055102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055102", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "high-density lipoprotein particle receptor binding", "id": "GO:0070653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070653", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "chemorepellent activity", "id": "GO:0045499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045499", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle", "id": "GO:0034363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034363", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "spherical high-density lipoprotein particle", "id": "GO:0034366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034366", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "discoidal high-density lipoprotein particle", "id": "GO:0034365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034365", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q00623", "url": "https://www.uniprot.org/uniprotkb/Q00623" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", 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"https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "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:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of 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"https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": 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CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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{ "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "positive regulation of heart 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development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle contraction", "id": "GO:0060452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060452", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "receptor guanylyl cyclase signaling pathway", "id": "GO:0007168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007168", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell membrane repolarization", "id": "GO:0060372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060372", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1902514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902514", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "positive regulation of potassium ion export across plasma membrane", "id": "GO:1903766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903766", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "negative regulation of collecting lymphatic vessel constriction", "id": "GO:1903815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903815", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "negative regulation of JUN kinase activity", "id": "GO:0043508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043508", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "cGMP metabolic process", "id": "GO:0046068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046068", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "hormone receptor binding", "id": "GO:0051427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051427", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "neuropeptide receptor binding", "id": "GO:0071855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071855", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" }, { "name": "guanylate cyclase activator activity", "id": "GO:0030250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030250", "evidence": [ { "database": "UniProtKB", "id": "P05125", "url": "https://www.uniprot.org/uniprotkb/P05125" } ], "pmid": "" } ], "cellular_component": [ { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q61839", "url": "https://www.uniprot.org/uniprotkb/Q61839" } ], "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": "Q61839", "url": "https://www.uniprot.org/uniprotkb/Q61839" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "Q61839", "url": "https://www.uniprot.org/uniprotkb/Q61839" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q61839", "url": "https://www.uniprot.org/uniprotkb/Q61839" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": 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"" } ], "biological_process": [ { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q6NS69", "url": "https://www.uniprot.org/uniprotkb/Q6NS69" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q6NS69", "url": "https://www.uniprot.org/uniprotkb/Q6NS69" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NS69-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Thr399", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", 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"GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "negative regulation of very-low-density lipoprotein particle 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"id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "negative regulation of cholesterol transport", "id": "GO:0032375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032375", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "triglyceride-rich lipoprotein particle remodeling", "id": "GO:0034370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034370", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "diacylglycerol catabolic process", "id": "GO:0046340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046340", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "positive regulation of lipid catabolic process", "id": "GO:0050996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050996", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "negative regulation of lipase activity", "id": "GO:0060192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060192", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "negative regulation of cholesterol import", "id": "GO:0060621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060621", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "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": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "cellular response to lipoprotein particle stimulus", "id": "GO:0071402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071402", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in immune response", "id": "GO:0002719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002719", "evidence": [ { "database": "UniProtKB", "id": "P09813", "url": "https://www.uniprot.org/uniprotkb/P09813" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P09813-1" }, { "uniprot_canonical_ac": "P21300-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35988.0, "gene_names": "Akr1b7;AR;Akr1b7;Avdp;MVDP", "protein_name": "Aldo-keto reductase family 1 member B7", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "retinal dehydrogenase (NAD+) activity", "id": "GO:0001758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001758", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "estradiol 17-beta-dehydrogenase [NAD(P)+] activity", "id": "GO:0004303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004303", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "geranylgeranyl reductase activity", "id": "GO:0045550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045550", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "indanol dehydrogenase activity", "id": "GO:0047718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047718", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "prostaglandin H2 endoperoxidase reductase activity", "id": "GO:0036130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036130", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NADP+) activity", "id": "GO:0052650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052650", "evidence": [ { "database": "UniProtKB", "id": "P21300", "url": "https://www.uniprot.org/uniprotkb/P21300" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P21300-1" }, { "uniprot_canonical_ac": "P40753-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 121, "chemical_mass": 13756.0, "gene_names": "Nppb;BNF;BNP;Iso-ANP;Nppb", "protein_name": "Natriuretic peptides B", "disease": [ { "disease_id": "DOID:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "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:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11516", "name": "hypertensive heart disease", "description": "A heart disease that is caused by high blood pressure.", "url": "https://disease-ontology.org/term/DOID:11516", "evidence": [ { "id": "11516", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11516" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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: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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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 clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9651", "name": "systolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9651", "evidence": [ { "id": "9651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9651" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "hormone receptor binding", "id": "GO:0051427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051427", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" } ], "biological_process": [ { "name": "cGMP biosynthetic process", "id": "GO:0006182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006182", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "receptor guanylyl cyclase signaling pathway", "id": "GO:0007168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007168", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "positive regulation of collecting lymphatic vessel constriction", "id": "GO:1903816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903816", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "cGMP metabolic process", "id": "GO:0046068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046068", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "negative regulation of cholangiocyte proliferation", "id": "GO:1904055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904055", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "P40753", "url": "https://www.uniprot.org/uniprotkb/P40753" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P40753-1" }, { "uniprot_canonical_ac": "P45377-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 36121.0, "gene_names": "Akr1b8;Akr1b8;FR-1;Fgfrp;Fgrp", "protein_name": "Aldose reductase-related protein 2", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "retinal dehydrogenase (NAD+) activity", "id": "GO:0001758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001758", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": "https://www.uniprot.org/uniprotkb/P45377" } ], "pmid": "" }, { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "P45377", "url": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BFZ3-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Asn13", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64409MC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VDDELTALVVDNGSGMCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 13, "start_aa": "Asn", "end_pos": 13, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn13", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BFZ3-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asn200", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G30248BL", "type": 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"icn3d_view": {}, "start_pos": 240, "start_aa": "Ser", "end_pos": 240, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser240", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BFZ3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BFZ3" } ] } ] } ], "record_id": "Q8BFZ3-1" }, { "uniprot_canonical_ac": "Q8CG27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CG27", "url": "https://www.uniprot.org/uniprotkb/Q8CG27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 415, "chemical_mass": 45771.0, "gene_names": "Actl9;1700029I08Rik;Actl7c;Actl9", "protein_name": "Actin-like protein 9", "disease": [ { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous 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} ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q9D5P4", "url": "https://www.uniprot.org/uniprotkb/Q9D5P4" } ], "pmid": "" }, { "name": "adenosine to inosine editing", "id": "GO:0006382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006382", "evidence": [ { "database": "UniProtKB", "id": "Q9D5P4", "url": "https://www.uniprot.org/uniprotkb/Q9D5P4" } ], "pmid": "" } ], "molecular_function": [ { "name": "tRNA-specific adenosine deaminase activity", "id": "GO:0008251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008251", "evidence": [ { "database": "UniProtKB", "id": "Q9D5P4", "url": "https://www.uniprot.org/uniprotkb/Q9D5P4" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q9D5P4", "url": 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regulation of protein export from nucleus", "id": "GO:0046827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "evidence": [ { "database": "UniProtKB", "id": "Q9EST5", "url": "https://www.uniprot.org/uniprotkb/Q9EST5" } ], "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": "Q9EST5", "url": "https://www.uniprot.org/uniprotkb/Q9EST5" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9EST5", "url": "https://www.uniprot.org/uniprotkb/Q9EST5" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "Q9EST5", "url": "https://www.uniprot.org/uniprotkb/Q9EST5" } ], "pmid": "" }, { "name": "roof of 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"binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EST5-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G94459LH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LELSENRIFGGLDRLAEELPSLTHLNLSGNNLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 94, "start_aa": "Asn", "end_pos": 94, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn94", "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": "Q9EST5-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ser164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", 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} ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WV08-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Asn13", "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": 13, "start_aa": "Asn", "end_pos": 13, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn13", "evidence": [ { "id": "Q9WV08", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV08#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV08-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 266, "chemical_mass": 30535.0, "gene_names": "Arv1;1110067L22Rik;Arv1", "protein_name": "Protein ARV1", "disease": [ { "disease_id": "DOID:0080417", "name": "developmental and epileptic encephalopathy 38", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0080417", "evidence": [ { "id": "0080417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080417" } ], "weight": 0.0 }, { "disease_id": "DOID:9455", "name": "lipid storage disease", "description": "A lysosomal storage disease that involves the accumulation of harmful amounts of 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intellectual disability ARX-related", "description": "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.", "url": "https://disease-ontology.org/term/DOID:0112021", "evidence": [ { "id": "0112021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112021" } ], "weight": 0.0 }, { "disease_id": "DOID:0112151", "name": "corpus callosum agenesis-abnormal genitalia syndrome", "description": "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.", "url": "https://disease-ontology.org/term/DOID:0112151", "evidence": [ { "id": "0112151", "database": "AGR", "url": 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II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "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": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "forebrain 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regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "lipid digestion", "id": "GO:0044241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044241", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "globus pallidus development", "id": "GO:0021759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021759", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "cerebral cortex tangential migration", "id": "GO:0021800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021800", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "embryonic olfactory bulb interneuron precursor migration", "id": "GO:0021831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021831", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "cell proliferation in forebrain", "id": "GO:0021846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021846", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "cerebral cortex GABAergic interneuron migration", "id": "GO:0021853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021853", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "epithelial cell fate commitment", "id": "GO:0072148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072148", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "enteroendocrine cell differentiation", "id": "GO:0035883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035883", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "pancreatic A cell differentiation", "id": "GO:0003310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003310", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "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": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "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": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "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": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35085", "url": "https://www.uniprot.org/uniprotkb/O35085" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35085-1" }, { "uniprot_canonical_ac": "P16951-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16951", "url": "https://www.uniprot.org/uniprotkb/P16951" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 487, "chemical_mass": 52298.0, "gene_names": "Atf2;Atf-2;Atf2;CRE-BP;Creb2;D130078H02Rik;Tg(Gzma-Klra1)7Wum;mXBP", "protein_name": "Cyclic AMP-dependent transcription factor 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"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:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11870", "name": "Pick's disease", "description": "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.", "url": "https://disease-ontology.org/term/DOID:11870", "evidence": [ { "id": "11870", "database": "AGR", "url": 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"url": "https://www.uniprot.org/uniprotkb/P16951" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P16951", "url": "https://www.uniprot.org/uniprotkb/P16951" } ], "pmid": "" }, { "name": "response to osmotic stress", "id": "GO:0006970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006970", "evidence": [ { "database": "UniProtKB", "id": "P16951", "url": "https://www.uniprot.org/uniprotkb/P16951" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P16951", "url": "https://www.uniprot.org/uniprotkb/P16951" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P16951", "url": 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"uniprot_canonical_ac": "Q09200-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Pro43", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "10", "chr_pos": "127002001", "evidence": [ { "id": "rs3389135485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389135485" } ] } ] }, { "uniprot_canonical_ac": "Q09200-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ala441", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "10", "chr_pos": "127006966", "evidence": [ { "id": "rs3401770868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401770868" } ] } ] }, { "uniprot_canonical_ac": "Q09200-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Asp444", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "10", "chr_pos": "127006974", "evidence": [ { "id": "rs3389128036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389128036" } ] } ] }, { "uniprot_canonical_ac": "Q09200-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Leu468", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "10", "chr_pos": "127007503", "evidence": [ { "id": "rs3389135481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389135481" } ] } ] }, { "uniprot_canonical_ac": "Q09200-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Glu499", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247290516" } ] } ] } ], "record_id": "Q09200-1" }, { "uniprot_canonical_ac": "Q8R2S9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 624, "chemical_mass": 70546.0, "gene_names": "Actr8;5730542K05Rik;ARP8;Actr8;Arp8", "protein_name": "Actin-related protein 8", "disease": [], "biological_process": [ { "name": "regulation of DNA strand elongation", "id": "GO:0060382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060382", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "regulation of chromosome organization", "id": "GO:0033044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033044", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "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": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance in response to DNA damage", "id": "GO:1904507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904507", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" }, { "name": "Ino80 complex", "id": "GO:0031011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031011", "evidence": [ { "database": "UniProtKB", "id": "Q8R2S9", "url": "https://www.uniprot.org/uniprotkb/Q8R2S9" } ], "pmid": "" } 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0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "67948447", "evidence": [ { "id": "rs3388555086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555086" } ] } ] }, { "uniprot_canonical_ac": "O54904-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ala96", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "67948573", "evidence": [ { "id": "rs3388555051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555051" } ] } ] } ], "record_id": "O54904-1" }, { "uniprot_canonical_ac": "O35623-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": 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[ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" }, { "name": "Golgi cis cisterna", "id": "GO:0000137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000137", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" }, { "name": "Golgi cisterna", "id": "GO:0031985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031985", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" }, { "name": "vesicle fusion with Golgi apparatus", "id": "GO:0048280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048280", "evidence": [ { "database": "UniProtKB", "id": "O35623", "url": "https://www.uniprot.org/uniprotkb/O35623" } ], "pmid": "" } ], "molecular_function": [ { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": 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Onset is after 2 years of age.", "url": "https://disease-ontology.org/term/DOID:0081334", "evidence": [ { "id": "0081334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081334" } ], "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O54962", "url": "https://www.uniprot.org/uniprotkb/O54962" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", 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Abolishes proteolytic cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q3TYD4", "url": "https://www.uniprot.org/uniprotkb/Q3TYD4" }, { "database": "PubMed", "id": "25135642", "url": "https://glygen.org/publication/PubMed/25135642" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Gly101", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109408150", "evidence": [ { "id": "rs3389182658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389182658" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109408162", "evidence": [ { "id": "rs3389174673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389174673" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Leu10", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109381287", "evidence": [ { "id": "rs3402378476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402378476" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Val111", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109408181", "evidence": [ { "id": "rs3401533702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3401533702" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Gly112", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109408184", "evidence": [ { "id": "rs3389225092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225092" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Thr120", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109408207", "evidence": [ { "id": "rs3402877991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402877991" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ala122", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109408213", "evidence": [ { "id": "rs3402101603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402101603" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "147", "end_pos": "147", "site_lbl": "His147", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109412515", "evidence": [ { "id": "rs245467888", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245467888" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ile159", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109416229", "evidence": [ { "id": "rs27052126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27052126" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Phe15", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109381302", "evidence": [ { "id": "rs3389213341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213341" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Tyr161", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109416237", "evidence": [ { "id": "rs3389210228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210228" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ala170", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109416262", "evidence": [ { "id": "rs259170070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259170070" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asp185", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109416307", "evidence": [ { "id": "rs3389188668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389188668" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Gly186", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109416310", "evidence": [ { "id": "rs3389225078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225078" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Leu201", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109418607", "evidence": [ { "id": "rs3389210212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210212" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Gly218", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109418657", "evidence": [ { "id": "rs27052114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27052114" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Val228", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109418687", "evidence": [ { "id": "rs3389183880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183880" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Phe230", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109418695", "evidence": [ { "id": "rs3389222072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389222072" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Leu247", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109424770", "evidence": [ { "id": "rs13473129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13473129" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109424823", "evidence": [ { "id": "rs241563932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241563932" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Arg270", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109424839", "evidence": [ { "id": "rs3389211003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211003" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Phe320", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109426139", "evidence": [ { "id": "rs3389207419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389207419" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Leu346", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109438893", "evidence": [ { "id": "rs3410818928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410818928" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Pro34", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109381359", "evidence": [ { "id": "rs254980647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254980647" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Val357", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109438926", "evidence": [ { "id": "rs241062330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241062330" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Gln35", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109381362", "evidence": [ { "id": "rs3389225068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389225068" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ile368", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109448787", "evidence": [ { "id": "rs242515873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242515873" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Val372", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109448799", "evidence": [ { "id": "rs3389174752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389174752" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Ser379", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109448821", "evidence": [ { "id": "rs3389210255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389210255" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Val391", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109448856", "evidence": [ { "id": "rs3389188652", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389188652" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Val394", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109448865", "evidence": [ { "id": "rs3389226771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389226771" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Gly397", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109448875", "evidence": [ { "id": "rs3389213321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213321" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ala413", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109454033", "evidence": [ { "id": "rs3389211001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211001" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Val444", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109463071", "evidence": [ { "id": "rs224001396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224001396" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Phe456", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109463108", "evidence": [ { "id": "rs3389183897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183897" } ] } ] }, { "uniprot_canonical_ac": "Q3TYD4-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Glu464", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "11", "chr_pos": "109463131", "evidence": [ { "id": "rs3389216349", "database": "dbSNP", "url": 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"record_id": "Q9CPW4-1" }, { "uniprot_canonical_ac": "Q9D0L6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0L6", "url": "https://www.uniprot.org/uniprotkb/Q9D0L6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 260, "chemical_mass": 29198.0, "gene_names": "Bambi;2610003H06Rik;Bambi;Nma", "protein_name": "BMP and activin membrane-bound inhibitor homolog", "disease": [ { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", 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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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"predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "Q9D0L6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D0L6#ptm_processing" } ] } ] } ], "record_id": "Q9D0L6-1" }, { "uniprot_canonical_ac": "Q61456-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61456", "url": "https://www.uniprot.org/uniprotkb/Q61456" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 47772.0, "gene_names": "Ccna1;Ccna1", "protein_name": "Cyclin-A1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": 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"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: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:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "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: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "early endosome lumen", "id": "GO:0031905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031905", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "positive regulation of cation channel activity", "id": "GO:2001259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001259", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "response to acidic pH", "id": "GO:0010447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010447", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "basement membrane disassembly", "id": "GO:0034769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034769", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide antigen", "id": "GO:0048002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048002", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "regulation of antigen processing and presentation", "id": "GO:0002577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002577", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "sensory perception of itch", "id": "GO:0160025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160025", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "O70370", "url": "https://www.uniprot.org/uniprotkb/O70370" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388645023" } ] } ] } ], "record_id": "O70370-1" }, { "uniprot_canonical_ac": "Q922M3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922M3", "url": "https://www.uniprot.org/uniprotkb/Q922M3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 35701.0, "gene_names": "Kctd10;Kctd10;mBACURD3", "protein_name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q922M3", "url": "https://www.uniprot.org/uniprotkb/Q922M3" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q922M3", "url": "https://www.uniprot.org/uniprotkb/Q922M3" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q922M3", "url": "https://www.uniprot.org/uniprotkb/Q922M3" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": 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